View genomic variant #0000000467
Chromosome |
12 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Type |
subst |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.25398284C>A |
Published as |
- |
GERP |
5.680 |
Segregation |
- |
DB-ID |
KRAS_000001 |
MSCV |
MSCV_0000467 |
dbSNP ID |
NA |
Frequency |
- |
Sources |
; |
Reference |
- |
Variant remarks |
- |
Genetic origin |
- |
Variant_disease |
- |
Average frequency (large NGS studies) |
Variant not found in online data sets |
Owner |
LOVD |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV000013413; RCV000029216; RCV000150895; RCV000154262; RCV000157944; RCV000428010; RCV000417765; RCV000439750; RCV000439101; RCV000585801; RCV002291496; RCV003455987; RCV003322589; | Chromosome | 12:25398284..25398284 | ClinVar Allele ID | 27622 | Disease database name and identifier | Human Phenotype Ontology:HP:0012209, MONDO:MONDO:0011908, MedGen:C0349639, OMIM:607785, Orphanet:86834|Human Phenotype Ontology:HP:0100031, MONDO:MONDO:0015074, MeSH:D013964, MedGen:C0040136, Orphanet:100087|Human Phenotype Ontology:HP:0100834, MONDO:MONDO:0005335, MeSH:D015179, MedGen:C0009404|MONDO:MONDO:0006279, MedGen:C1708781|MedGen:C3661900|Human Phenotype Ontology:HP:0010815, MedGen:C3854181|Human Phenotype Ontology:HP:0010817, MONDO:MONDO:0008097, MedGen:C4552097, OMIM:163200, Orphanet:2612|Human Phenotype Ontology:HP:0001914, Human Phenotype Ontology:HP:0004808, Human Phenotype Ontology:HP:0004843, Human Phenotype Ontology:HP:0005516, Human Phenotype Ontology:HP:0006724, Human Phenotype Ontology:HP:0006728, MONDO:MONDO:0018874, MeSH:D015470, MedGen:C0023467, OMIM:601626, Orphanet:519|Human Phenotype Ontology:HP:0002408, MONDO:MONDO:0007154, MedGen:C0917804, OMIM:108010, Orphanet:46724|Human Phenotype Ontology:HP:0005506, Human Phenotype Ontology:HP:0005544, MONDO:MONDO:0011996, MeSH:D015464, MedGen:C0279543, OMIM:608232, Orphanet:521|MONDO:MONDO:0005192, MeSH:C562463, MedGen:C0235974, OMIM:260350, Orphanet:1333, Orphanet:217074|Human Phenotype Ontology:HP:0100615, MONDO:MONDO:0021068, MeSH:D010051, MedGen:C0919267, OMIM:167000|Human Phenotype Ontology:HP:0030358, MONDO:MONDO:0005233, MeSH:D002289, MedGen:C0007131 | ClinVar preferred disease name | Juvenile myelomonocytic leukemia|Thyroid tumor|Neoplasm of the large intestine|Lung sarcomatoid carcinoma|not provided|Nevus sebaceous|Linear nevus sebaceous syndrome|Acute myeloid leukemia|Cerebral arteriovenous malformation|Chronic myelogenous leukemia, BCR-ABL1 positive|Carcinoma of pancreas|Neoplasm of ovary|Non-small cell lung carcinoma | HGVS variant names | NC 000012.11:g.25398284C>A | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | COSMIC:520|ClinGen:CA122540|OMIM:190070.0006|OMIM:190070.0026|UniProtKB:P01116#VAR 006840 | Gene symbol:Gene id. | KRAS:3845 | Molecular consequence | SO:0001583|missense variant | Allele origin | | dbSNP ID | 121913529 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000038266; RCV000423968; RCV000441134; RCV000434342; RCV000443636; RCV000984117; RCV001355876; RCV001374446; RCV003398604; | Chromosome | 12:25398284..25398284 | ClinVar Allele ID | 54289 | Disease database name and identifier | .|Human Phenotype Ontology:HP:0100834, MONDO:MONDO:0005335, MeSH:D015179, MedGen:C0009404|MONDO:MONDO:0005411, MedGen:C0153452|MedGen:C3661900|Human Phenotype Ontology:HP:0100615, MONDO:MONDO:0021068, MeSH:D010051, MedGen:C0919267, OMIM:167000|Human Phenotype Ontology:HP:0100723, MONDO:MONDO:0011719, MeSH:D046152, MedGen:C0238198, OMIM:606764, Orphanet:44890|Human Phenotype Ontology:HP:0006775, MONDO:MONDO:0009693, MeSH:D009101, MedGen:C0026764, OMIM:254500, Orphanet:29073, Orphanet:85443|Human Phenotype Ontology:HP:0030358, MONDO:MONDO:0005233, MeSH:D002289, MedGen:C0007131|Human Phenotype Ontology:HP:0030078, MONDO:MONDO:0005061, MeSH:D000077192, MedGen:C0152013 | ClinVar preferred disease name | KRAS-related condition|Neoplasm of the large intestine|Gallbladder cancer|not provided|Neoplasm of ovary|Gastrointestinal stroma tumor|Multiple myeloma|Non-small cell lung carcinoma|Lung adenocarcinoma | HGVS variant names | NC 000012.11:g.25398284C>G | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA135567|UniProtKB:P01116#VAR 036305 | Gene symbol:Gene id. | KRAS:3845 | Molecular consequence | SO:0001583|missense variant | Allele origin | | dbSNP ID | 121913529 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000013411; RCV000022799; RCV000029214; RCV000029215; RCV000144969; RCV000144970; RCV000150896; RCV000150897; RCV000272938; RCV000426369; RCV000425250; RCV000433573; RCV000443973; RCV000548006; RCV000585796; RCV000662266; RCV000856666; RCV001799604; RCV001839445; RCV00250; | Chromosome | 12:25398284..25398284 | Allele frequencies from ExAC | 0.00002 | ClinVar Allele ID | 27621 | Disease database name and identifier | Human Phenotype Ontology:HP:0100031, MONDO:MONDO:0015074, MeSH:D013964, MedGen:C0040136, Orphanet:100087|Human Phenotype Ontology:HP:0100834, MONDO:MONDO:0005335, MeSH:D015179, MedGen:C0009404|MONDO:MONDO:0006193, MedGen:C1516855|MONDO:MONDO:0006096, MedGen:C0349579|MONDO:MONDO:0013074, MedGen:C0406612, OMIM:613001, Orphanet:2396|Human Phenotype Ontology:HP:0012126, MONDO:MONDO:0001056, MeSH:D013274, MedGen:C0024623, OMIM:613659|Human Phenotype Ontology:HP:0012209, MONDO:MONDO:0011908, MedGen:C0349639, OMIM:607785, Orphanet:86834|MedGen:C4302356|.|MedGen:C3661900|MONDO:MONDO:0021060, MedGen:C5555857, Orphanet:536391|Human Phenotype Ontology:HP:0010815, MedGen:C3854181|Human Phenotype Ontology:HP:0010817, MONDO:MONDO:0008097, MedGen:C4552097, OMIM:163200, Orphanet:2612|Human Phenotype Ontology:HP:0001914, Human Phenotype Ontology:HP:0004808, Human Phenotype Ontology:HP:0004843, Human Phenotype Ontology:HP:0005516, Human Phenotype Ontology:HP:0006724, Human Phenotype Ontology:HP:0006728, MONDO:MONDO:0018874, MeSH:D015470, MedGen:C0023467, OMIM:601626, Orphanet:519|MONDO:MONDO:0005192, MeSH:C562463, MedGen:C0235974, OMIM:260350, Orphanet:1333, Orphanet:217074|Human Phenotype Ontology:HP:0100615, MONDO:MONDO:0021068, MeSH:D010051, MedGen:C0919267, OMIM:167000|Human Phenotype Ontology:HP:0002408, MONDO:MONDO:0007154, MedGen:C0917804, OMIM:108010, Orphanet:46724|MONDO:MONDO:0005138, MedGen:C0684249|Human Phenotype Ontology:HP:0010816, MONDO:MONDO:0008093, MedGen:C0334082, OMIM:162900, Orphanet:79414|MONDO:MONDO:0020783, MedGen:C4747394, OMIM:608354, Orphanet:137667, Orphanet:90307|Human Phenotype Ontology:HP:0030358, MONDO:MONDO:0005233, MeSH:D002289, MedGen:C0007131|MONDO:MONDO:0013767, MedGen:C2674723, OMIM:614470, Orphanet:268114 | ClinVar preferred disease name | Thyroid tumor|Neoplasm of the large intestine|Endometrial hyperplasia without atypia|Atypical endometrial hyperplasia|Encephalocraniocutaneous lipomatosis|Stomach cancer|Juvenile myelomonocytic leukemia|Primary low grade serous adenocarcinoma of ovary|Vascular Tumors Including Pyogenic Granuloma|not provided|RASopathy|Nevus sebaceous|Linear nevus sebaceous syndrome|Acute myeloid leukemia|Carcinoma of pancreas|Neoplasm of ovary|Cerebral arteriovenous malformation|Lung carcinoma|Epidermal nevus|Capillary malformation-arteriovenous malformation 1|Non-small cell lung carcinoma|Autoimmune lymphoproliferative syndrome type 4 | HGVS variant names | NC 000012.11:g.25398284C>T | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA122538|OMIM:190070.0005|OMIM:190070.0025|UniProtKB:P01116#VAR 016026 | Gene symbol:Gene id. | KRAS:3845 | Molecular consequence | SO:0001583|missense variant | Allele origin | | dbSNP ID | 121913529 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
MSeqDR View Variant at Gbrowse Mitomap Mitochondrial Variant Phenotype Information:
None Ensembl Variant Phenotype Information:
None
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