View genomic variant #0000000468

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>G
Published as -
GERP 5.680
Segregation -
DB-ID KRAS_000002
MSCV MSCV_0000468
dbSNP ID NA
Frequency -
Sources ;
Reference -
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts

1 entry on 1 page. Showing entry 1.
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Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

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Exon     

PolyPhen     

RNA change     

SIFT     
KRAS 00003332 NM_033360.2 0000000468 ./. c.35G>C p.(=) missense_variant - 2/6 possibly_damaging(0.773) r.(=) deleterious(0.02)
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ClinVar @ MSeqDR

RCVaccession RCV000439750; RCV000013413; RCV000585801; RCV000439101; RCV000150895; RCV000417765; RCV000029216; RCV000154262; RCV000428010; RCV000157944;
Chromosome 12:25398284..25398284
ClinVar Allele ID 27622
Disease database name and identifier Human Phenotype Ontology:HP:0002408, MedGen:C0917804, OMIM:108010, SNOMED CT:234142008|Human Phenotype Ontology:HP:0004808, MeSH:D015470, MedGen:C0023467, OMIM:601626, Orphanet:ORPHA519, SNOMED CT:17788007|Human Phenotype Ontology:HP:0012209, MedGen:C0349639, OMIM:607785, Orphanet:ORPHA86834|Human Phenotype Ontology:HP:0030358, MeSH:D002289, MedGen:C0007131, SNOMED CT:254637007|Human Phenotype Ontology:HP:0100031, MeSH:D013964, MedGen:C0040136, Orphanet:ORPHA100087|MeSH:C562463, MedGen:C0235974, OMIM:260350, Orphanet:ORPHA217074, SNOMED CT:372142002|MeSH:D010051, MedGen:CN236629|MeSH:D015179, MedGen:CN236642|MedGen:C0853032|MedGen:CN517202
ClinVar preferred disease name Cerebral arteriovenous malformation|Acute myeloid leukemia|Juvenile myelomonocytic leukemia|Non-small cell lung cancer|Neoplasm of the thyroid gland|Carcinoma of pancreas|Ovarian Neoplasms|Colorectal Neoplasms|Nevus sebaceous|not provided
HGVS variant names NC 000012.11:g.25398284C>A
ClinVar review status criteria provided, single submitter
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:190070.0006|OMIM Allelic Variant:190070.0026|UniProtKB (protein):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 RCV000434342; RCV000441134; RCV000423968; RCV000038266; RCV000443636;
Chromosome 12:25398284..25398284
ClinVar Allele ID 54289
Disease database name and identifier Human Phenotype Ontology:HP:0030078, MeSH:C538231, MedGen:C0152013|Human Phenotype Ontology:HP:0030358, MeSH:D002289, MedGen:C0007131, SNOMED CT:254637007|Human Phenotype Ontology:HP:0100723, MeSH:D046152, MedGen:C0238198, OMIM:606764, Orphanet:ORPHA44890|MeSH:D010051, MedGen:CN236629|MeSH:D015179, MedGen:CN236642
ClinVar preferred disease name Lung adenocarcinoma|Non-small cell lung cancer|Gastrointestinal stroma tumor|Ovarian Neoplasms|Colorectal Neoplasms
HGVS variant names NC 000012.11:g.25398284C>G
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic/Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported UniProtKB (protein):P01116#VAR 036305
Gene symbol:Gene id. KRAS:3845
Molecular consequence SO:0001583|missense variant
Allele origin somatic
dbSNP ID 121913529
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000433573; RCV000013411; RCV000585796; RCV000426369; RCV000022799; RCV000029215; RCV000144969; RCV000425250; RCV000150897; RCV000013412; RCV000443973; RCV000029214; RCV000150896; RCV000436345; RCV000144970; RCV000548006; RCV000272938;
Chromosome 12:25398284..25398284
Allele frequencies from ExAC 0.00002
ClinVar Allele ID 27621
Disease database name and identifier Gene:6765, Human Phenotype Ontology:HP:0100615, MedGen:C0919267, OMIM:167000, SNOMED CT:123843001|Human Phenotype Ontology:HP:0002408, MedGen:C0917804, OMIM:108010, SNOMED CT:234142008|Human Phenotype Ontology:HP:0004808, MeSH:D015470, MedGen:C0023467, OMIM:601626, Orphanet:ORPHA519, SNOMED CT:17788007|Human Phenotype Ontology:HP:0006753, MeSH:D013274, MedGen:C0038356, OMIM:613659, SNOMED CT:126824007|Human Phenotype Ontology:HP:0010816, MedGen:C0334082, OMIM:162900, Orphanet:ORPHA35125, SNOMED CT:25201003|Human Phenotype Ontology:HP:0012209, MedGen:C0349639, OMIM:607785, Orphanet:ORPHA86834|Human Phenotype Ontology:HP:0030358, MeSH:D002289, MedGen:C0007131, SNOMED CT:254637007|Human Phenotype Ontology:HP:0100031, MeSH:D013964, MedGen:C0040136, Orphanet:ORPHA100087|MeSH:C562463, MedGen:C0235974, OMIM:260350, Orphanet:ORPHA217074, SNOMED CT:372142002|MeSH:D010051, MedGen:CN236629|MeSH:D015179, MedGen:CN236642|MedGen:C0265318, OMIM:163200, SNOMED CT:239112008|MedGen:C0684249, OMIM:211980, SNOMED CT:187875007|MedGen:C0853032|MedGen:C2674723, OMIM:614470, Orphanet:ORPHA268114|MedGen:CN166718, Orphanet:ORPHA98733|MedGen:CN517202
ClinVar preferred disease name Neoplasm of ovary|Cerebral arteriovenous malformation|Acute myeloid leukemia|Neoplasm of stomach|Epidermal nevus|Juvenile myelomonocytic leukemia|Non-small cell lung cancer|Neoplasm of the thyroid gland|Carcinoma of pancreas|Ovarian Neoplasms|Colorectal Neoplasms|Epidermal nevus syndrome|Lung cancer|Nevus sebaceous|RAS-associated autoimmune leukoproliferative disorder|Rasopathy|not provided
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 OMIM Allelic Variant:190070.0005|OMIM Allelic Variant:190070.0025|UniProtKB (protein):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:

variation_namechromseq_region_startseq_region_endallele_stringminor_alleleminor_allele_freqvariation_setPhenotype_description
rs121913529122539828425398284C/G/T/AOMIM phenotype variantsPANCREATIC CARCINOMA, SOMATIC
rs121913529122539828425398284C/G/T/AOMIM phenotype variantsNEVUS SEBACEOUS, SOMATIC
rs121913529122539828425398284C/G/T/AOMIM phenotype variantsNon-small cell lung cancer
rs121913529122539828425398284C/G/T/AOMIM phenotype variantsGASTRIC CANCER, SOMATIC
rs121913529122539828425398284C/G/T/AOMIM phenotype variantsNevus, epidermal, somatic
rs121913529122539828425398284C/G/T/AOMIM phenotype variantsSCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC
CM087372122539828425398284HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available