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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Endocrine Gland Neoplasms (D004701)
Parent Node: Genital Neoplasms, Female (D005833)
Parent Node: Ovarian Diseases (D010049)
..Starting node ..Ovarian Neoplasms (D010051)
Child Nodes:
........Achard-Thiers syndrome (C536013)
........BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 (OMIM:604370)
........BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 (OMIM:612555)
........BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 (OMIM:613399)
........Brenner Tumor (D001948)
........Cancer of the oviduct (C538511)
........Carcinoma, Endometrioid (D018269)
........Granulosa Cell Tumor (D006106) 2
........Hereditary Breast and Ovarian Cancer Syndrome (D061325)
........Luteoma (D018311)
........Meigs Syndrome (D008539)
........Ovarian epithelial cancer (C538090)
........Ovarian Fibromata (C562391)
........Ovarian Germ Cell Cancer (C562841)
........Sertoli-Leydig Cell Tumor (D018310) 6
........Teratoma, Ovarian (C562731)
........Thecoma (D013798)
Sister Nodes:
..Anovulation (D000858)
..Chondrodysplasia, acromesomelic, with genital anomalies (C537913)
..Menopause, Premature (D008594) 1
..Oophoritis (D009869) 1
..Ovarian Cysts (D010048) 5
..OVARIAN DYSGENESIS 1 (OMIM:233300)
..Ovarian Hyperstimulation Syndrome (D016471)
..Ovarian Neoplasms (D010051) 25
..Primary Ovarian Insufficiency (D016649) 9
..Vanishing White Matter Leukodystrophy with Ovarian Failure (C565836)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8491

Name:

Ovarian Neoplasms

Definition:

Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS.

Alternative IDs:

OMIM:167000|OMIM:607893

ParentIDs:

MESH:D004701|MESH:D005833|MESH:D010049

TreeNumbers:

C04.588.322.455 |C13.351.500.056.630.705 |C13.351.937.418.685 |C19.344.410 |C19.391.630.705

Synonyms:

Slim Mappings:

Cancer|Endocrine system disease|Urogenital disease (female)

Reference:

MedGen: D010051
MeSH: D010051
OMIM: 167000;

Genes: AKT1; CDH1; CTNNB1; OPCML; PARK2; PIK3CA;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001939	Abnormality of metabolism/homeostasis
3	HP:0003002	Breast carcinoma
4	HP:0100621	Dysgerminoma
5	HP:0006774	Ovarian papillary adenocarcinoma

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NC_012920.1:m.14743A>G	-1	-	Likely pathogenic	527236161	RCV000133403;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001	M	14743	14743	-	-	NC_012920.1:m.14743A>G	-	C0919267 167000 Neoplasm of ovary
NM_005163.2(AKT1):c.49G>A (p.Glu17Lys)	207	AKT1	Pathogenic	121434592	RCV000015017; RCV000015018; RCV000015019; RCV000031926;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001; MedGen:C0085261,OMIM:176920,ORPHA:744,SNOMED CT:23150001; MedGen:C0699790,OMIM:114500,SNOMED CT:269533000; MedGen:C0858252	14	105246551	105246551	NM_005163.2:c.49G>A	NP_005154.2:p.Glu17Lys	NC_000014.8:g.105246551C>T	OMIM Allelic Variant:164730.0001	C0858252 Breast adenocarcinoma; C0699790 114500 Carcinoma of colon; C0919267 167000 Neoplasm of ovary; C0085261 176920 Proteus syndrome
NM_004360.4(CDH1):c.2512A>G (p.Ser838Gly)	999	CDH1	Likely benign;Pathogenic;Uncertain significance	121964872	RCV000198450; RCV000013020; RCV000212390; RCV000115857;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001; MedGen:C0027672,SNOMED CT:699346009; MedGen:C1708349,OMIM:137215; MedGen:CN169374	16	68867265	68867265	NM_004360.4:c.2512A>G	NP_004351.1:p.Ser838Gly		OMIM Allelic Variant:192090.0003	C0027672 Hereditary cancer-predisposing syndrome; C1708349 137215 Hereditary diffuse gastric cancer; C0919267 167000 Neoplasm of ovary; CN169374 not specified
NM_001904.3(CTNNB1):c.110C>G (p.Ser37Cys)	1499	CTNNB1	Likely pathogenic;Pathogenic	121913403	RCV000030945; RCV000019141; RCV000087195;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001; MedGen:C0206711,OMIM:132600,ORPHA:91414; MedGen:CN221809	3	41266113	41266113	NM_001904.3:c.110C>G	NP_001895.1:p.Ser37Cys	NC_000003.11:g.41266113C>G,NC_000003.11:g.41266113C>T	OMIM Allelic Variant:116806.0009,OMIM Allelic Variant:116806.0012	C0919267 167000 Neoplasm of ovary; CN221809 not provided; C0206711 132600 Pilomatrixoma
NM_001005862.2(ERBB2):c.2480A>G (p.Asn827Ser)	2064	ERBB2	Pathogenic	28933370	RCV000014894;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001	17	37881378	37881378	NM_001005862.2:c.2480A>G	NP_001005862.1:p.Asn827Ser	NC_000017.10:g.37881378A>G	OMIM Allelic Variant:164870.0008	C0919267 167000 Neoplasm of ovary
NM_001005862.2(ERBB2):c.2515C>T (p.Leu839=)	2064	ERBB2	not provided	104886010	RCV000119349;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001	17	37881413	37881413	NM_001005862.2:c.2515C>T	NP_001005862.1:p.Leu839=	NC_000017.10:g.37881413C>T	-	C0919267 167000 Neoplasm of ovary
NM_022965.3(FGFR3):c.1793G>T (p.Gly598Val)	2261	FGFR3	not provided	104886023	RCV000119369;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001	4	1808371	1808371	NM_022965.3:c.1793G>T	NP_075254.1:p.Gly598Val	NC_000004.11:g.1808371G>T	-	C0919267 167000 Neoplasm of ovary
NM_001002295.1(GATA3):c.925-16C>T	2625	GATA3	not provided	104886016	RCV000119362;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001	10	8111420	8111420	NM_001002295.1:c.925-16C>T		NC_000010.10:g.8111420C>T	-	C0919267 167000 Neoplasm of ovary
NM_033360.3(KRAS):c.35G>A (p.Gly12Asp)	3845	KRAS	Pathogenic	121913529	RCV000144969; RCV000144970; RCV000150896; RCV000022799; RCV000150897; RCV000013411; RCV000013412; RCV000029214; RCV000029215;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001; MedGen:C0007131,SNOMED CT:254637007; MedGen:C0038356,OMIM:613659,SNOMED CT:126824007; MedGen:C0235974,OMIM:260350,ORPHA:217074,SNOMED CT:372142002; MedGen:C0265318,OMIM:163200,SNOMED CT:239112008; Me	12	25398284	25398284	NM_033360.3:c.35G>A	NP_203524.1:p.Gly12Asp	NC_000012.11:g.25398284C>A,NC_000012.11:g.25398284C>G,NC_000012.11:g.25398284C>T	OMIM Allelic Variant:190070.0005	C0235974 260350 Carcinoma of pancreas; C0265318 163200 Epidermal nevus syndrome; C0919267 167000 Neoplasm of ovary; C0038356 613659 Neoplasm of stomach; C0007131 Non-small cell lung cancer
NM_033360.3(KRAS):c.34G>A (p.Gly12Ser)	3845	KRAS	Pathogenic	121913530	RCV000144971; RCV000038264; RCV000119790; RCV000013414;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001; MedGen:C0007131,SNOMED CT:254637007; MedGen:C0038356,OMIM:613659,SNOMED CT:126824007; MedGen:C0349639,OMIM:607785,ORPHA:86834	12	25398285	25398285	NM_033360.3:c.34G>A	NP_203524.1:p.Gly12Ser	NC_000012.11:g.25398285C>A,NC_000012.11:g.25398285C>G,NC_000012.11:g.25398285C>T	OMIM Allelic Variant:190070.0007	C0349639 607785 Juvenile myelomonocytic leukemia; C0919267 167000 Neoplasm of ovary; C0038356 613659 Neoplasm of stomach; C0007131 Non-small cell lung cancer
NC_012920.1:m.14753C>T	4519	MT-CYB	Likely pathogenic	527236162	RCV000133404;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001	M	14753	14753	-	-	NC_012920.1:m.14753C>T	-	C0919267 167000 Neoplasm of ovary
NC_012920.1:m.14784T>C	4519	MT-CYB	Likely pathogenic	527236163	RCV000133405;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001	M	14784	14784	-	-	NC_012920.1:m.14784T>C	-	C0919267 167000 Neoplasm of ovary
NC_012920.1:m.15058C>T	4519	MT-CYB	Likely pathogenic	527236171	RCV000133413;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001	M	15058	15058	-	-	NC_012920.1:m.15058C>T	-	C0919267 167000 Neoplasm of ovary
NC_012920.1:m.15061A>G	4519	MT-CYB	Likely pathogenic	527236205	RCV000133452;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001	M	15061	15061	-	-	NC_012920.1:m.15061A>G	-	C0919267 167000 Neoplasm of ovary
NC_012920.1:m.15098A>G	4519	MT-CYB	Likely pathogenic	527236172	RCV000133414;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001	M	15098	15098	-	-	NC_012920.1:m.15098A>G	-	C0919267 167000 Neoplasm of ovary
NC_012920.1:m.15148G>A	4519	MT-CYB	Likely pathogenic	527236206	RCV000133453;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001	M	15148	15148	-	-	NC_012920.1:m.15148G>A	-	C0919267 167000 Neoplasm of ovary
NC_012920.1:m.15259C>T	4519	MT-CYB	Likely pathogenic	527236207	RCV000133454;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001	M	15259	15259	-	-	NC_012920.1:m.15259C>T	-	C0919267 167000 Neoplasm of ovary
NC_012920.1:m.15314G>A	4519	MT-CYB	Likely pathogenic	527236176	RCV000133418;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001	M	15314	15314	-	-	NC_012920.1:m.15314G>A	-	C0919267 167000 Neoplasm of ovary
NC_012920.1:m.15328A>G	4519	MT-CYB	Likely pathogenic	527236178	RCV000133420;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001	M	15328	15328	-	-	NC_012920.1:m.15328A>G	-	C0919267 167000 Neoplasm of ovary
NC_012920.1:m.15334C>T	4519	MT-CYB	Likely pathogenic	527236179	RCV000133421;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001	M	15334	15334	-	-	NC_012920.1:m.15334C>T	-	C0919267 167000 Neoplasm of ovary
NC_012920.1:m.15363A>G	4519	MT-CYB	Likely pathogenic	527236182	RCV000133426;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001	M	15363	15363	-	-	NC_012920.1:m.15363A>G	-	C0919267 167000 Neoplasm of ovary
NC_012920.1:m.15431G>A	4519	MT-CYB	Likely pathogenic	193302993	RCV000133455;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001	M	15431	15431	-	-	NC_012920.1:m.15431G>A	-	C0919267 167000 Neoplasm of ovary
NC_012920.1:m.15452C>A	4519	MT-CYB	Likely pathogenic	193302994	RCV000133456;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001	M	15452	15452	-	-	NC_012920.1:m.15452C>A	-	C0919267 167000 Neoplasm of ovary
NC_012920.1:m.15453T>C	4519	MT-CYB	Likely pathogenic	527236184	RCV000133428;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001	M	15453	15453	-	-	NC_012920.1:m.15453T>C	-	C0919267 167000 Neoplasm of ovary
NC_012920.1:m.15459C>T	4519	MT-CYB	Likely pathogenic	527236186	RCV000133430;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001	M	15459	15459	-	-	NC_012920.1:m.15459C>T	-	C0919267 167000 Neoplasm of ovary
NC_012920.1:m.15511T>C	4519	MT-CYB	Likely pathogenic	527236188	RCV000133432;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001	M	15511	15511	-	-	NC_012920.1:m.15511T>C	-	C0919267 167000 Neoplasm of ovary
NC_012920.1:m.15607A>G	4519	MT-CYB	Likely pathogenic	193302996	RCV000133457;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001	M	15607	15607	-	-	NC_012920.1:m.15607A>G	-	C0919267 167000 Neoplasm of ovary
NC_012920.1:m.15670T>C	4519	MT-CYB	Likely pathogenic	193302997	RCV000133458;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001	M	15670	15670	-	-	NC_012920.1:m.15670T>C	-	C0919267 167000 Neoplasm of ovary
NC_012920.1:m.15884G>A	4519	MT-CYB	Likely pathogenic	527236195	RCV000133439;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001	M	15884	15884	-	-	NC_012920.1:m.15884G>A	-	C0919267 167000 Neoplasm of ovary
NC_012920.1:m.15890C>A	4576	MT-TT	Likely pathogenic	527236196	RCV000133440;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001	M	15890	15890	-	-	NC_012920.1:m.15890C>A	-	C0919267 167000 Neoplasm of ovary
NC_012920.1:m.15928G>A	4576	MT-TT	Likely pathogenic	527236198	RCV000133442;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001	M	15928	15928	-	-	NC_012920.1:m.15928G>A	-	C0919267 167000 Neoplasm of ovary
NC_012920.1:m.15932T>G	4576	MT-TT	Likely pathogenic	527236199	RCV000133443;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001	M	15932	15932	-	-	NC_012920.1:m.15932T>G	-	C0919267 167000 Neoplasm of ovary
NC_012920.1:m.15943T>C	4576	MT-TT	Likely pathogenic	527236200	RCV000133444;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001	M	15943	15943	-	-	NC_012920.1:m.15943T>C	-	C0919267 167000 Neoplasm of ovary
NM_001012393.2(OPCML):c.263C>G (p.Pro88Arg)	4978	OPCML	Pathogenic	137852691	RCV000009546;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001	11	132527098	132527098	NM_001012393.2:c.263C>G	NP_001012393.1:p.Pro88Arg	NC_000011.9:g.132527098G>C	OMIM Allelic Variant:600632.0001	C0919267 167000 Neoplasm of ovary
NM_024675.3(PALB2):c.1050_1053delAACA (p.Thr351Argfs)	79728	PALB2	Pathogenic	515726060	RCV000114456; RCV000129806;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001; MedGen:C0027672,SNOMED CT:699346009	16	23646814	23646817	NM_024675.3:c.1050_1053delAACA	NP_078951.2:p.Thr351Argfs		PALB2 database:PALB2_10062	C0027672 Hereditary cancer-predisposing syndrome; C0919267 167000 Neoplasm of ovary
NM_006218.3(PIK3CA):c.1258T>C (p.Cys420Arg)	5290	PIK3CA	Pathogenic	121913272	RCV000154512; RCV000024623; RCV000201232;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001; MedGen:C2752042,OMIM:612918,ORPHA:140944; MedGen:CN233161	3	178927980	178927980	NM_006218.3:c.1258T>C	NP_006209.2:p.Cys420Arg		OMIM Allelic Variant:171834.0010	C2752042 612918 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi; C0919267 167000 Neoplasm of ovary; CN233161 PIK3CA Related Overgrowth Spectrum
NM_006218.3(PIK3CA):c.1624G>A (p.Glu542Lys)	5290	PIK3CA	Pathogenic	121913273	RCV000154513; RCV000151649; RCV000024622;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001; MedGen:C0007131,SNOMED CT:254637007; MedGen:C2752042,OMIM:612918,ORPHA:140944	3	178936082	178936082	NM_006218.3:c.1624G>A	NP_006209.2:p.Glu542Lys		OMIM Allelic Variant:171834.0009	C2752042 612918 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi; C0919267 167000 Neoplasm of ovary; C0007131 Non-small cell lung cancer
NM_006218.3(PIK3CA):c.1634A>C (p.Glu545Ala)	5290	PIK3CA	Pathogenic	121913274	RCV000014643; RCV000154515;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001; MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001	3	178936092	178936092	NM_006218.3:c.1634A>C	NP_006209.2:p.Glu545Ala		OMIM Allelic Variant:171834.0008	C2239176 114550 Hepatocellular carcinoma; C0919267 167000 Neoplasm of ovary; C0410173 253700 Severe autosomal recessive muscular dystrophy of childhood - North African type
NM_006218.3(PIK3CA):c.1637A>G (p.Gln546Arg)	5290	PIK3CA	Pathogenic	397517201	RCV000038672;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001	3	178936095	178936095	NM_006218.3:c.1637A>G	NP_006209.2:p.Gln546Arg	NC_000003.11:g.178936095A>G	-	C0919267 167000 Neoplasm of ovary
NM_006218.3(PIK3CA):c.3140A>G (p.His1047Arg)	5290	PIK3CA	Pathogenic	121913279	RCV000014622; RCV000014624; RCV000014623; RCV000014627; RCV000014626; RCV000154516; RCV000014628; RCV000014625; RCV000024621; RCV000201231;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001; MedGen:C0007131,SNOMED CT:254637007; MedGen:C0022603,OMIM:182000; MedGen:C0038356,OMIM:613659,SNOMED CT:126824007; MedGen:C0677886; MedGen:C0699790,OMIM:114500,SNOMED CT:269533000; MedGen:C0858252; Med	3	178952085	178952085	NM_006218.3:c.3140A>G	NP_006209.2:p.His1047Arg		OMIM Allelic Variant:171834.0001	C0858252 Breast adenocarcinoma; C0699790 114500 Carcinoma of colon; C0022603 182000 Keratosis, seborrheic; C0919267 167000 Neoplasm of ovary; C0038356 613659 Neoplasm of stomach; C0007131 Non-small cell lung cancer; C0677886 Ovarian epithelial cancer
NM_001177314.1(RRAS2):c.110A>T (p.Gln37Leu)	22800	RRAS2	Pathogenic	113954997	RCV000010054;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001	11	14316390	14316390	NM_001177314.1:c.110A>T	NP_001170785.1:p.Gln37Leu	NC_000011.9:g.14316390T>A	OMIM Allelic Variant:600098.0001	C0919267 167000 Neoplasm of ovary
NM_000546.5(TP53):c.666G>T (p.Pro222=)	7157	TP53	Benign;Likely benign	72661118	RCV000199198; RCV000119374; RCV000162396;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0085390, Orphanet:ORPHA524,SNOMED CT:428850001	17	7578183	7578183	NM_000546.5:c.666G>T	NP_000537.3:p.Pro222=	NC_000017.10:g.7578183C>A,NC_000017.10:g.7578183C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0085390 Li-Fraumeni syndrome; C0919267 167000 Neoplasm of ovary
NM_000546.5(TP53):c.462C>T (p.Gly154=)	7157	TP53	not provided	137852793	RCV000119798;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001	17	7578468	7578468	NM_000546.5:c.462C>T	NP_000537.3:p.Gly154=	NC_000017.10:g.7578468G>A	-	C0919267 167000 Neoplasm of ovary