Annotation Detail

Information
Associated Genes
VEGFA POLR1C
Associated Variants
VEGFA c.*237C>T ( ENST00000230480.10, ENST00000372064.9, ENST00000372067.8, ENST00000372077.8, ENST00000425836.9, ENST00000520948.5, ENST00000523950.5, ENST00000672860.3 )
VEGFA c.*237C>T ( ENST00000230480.10, ENST00000372064.9, ENST00000372067.8, ENST00000372077.8, ENST00000425836.9, ENST00000520948.5, ENST00000523950.5, ENST00000672860.3 )
Associated Disease
cholangiocarcinoma
Source Database
ClinVar
Description
NM_003376.6(VEGFA):c.*237C>T AND Cholangiocarcinoma
ClinVar Allele ID
2736344
ClinVar RefSeq Alternation Syntax
NM_001318876.2:c.945+255528C>T
ClinVar RefSeq Alternation Syntax
NM_001171628.2:c.*237C>T
ClinVar RefSeq Alternation Syntax
NM_001287044.2:c.*237C>T
ClinVar RefSeq Alternation Syntax
NM_001171630.2:c.*237C>T
ClinVar RefSeq Alternation Syntax
NM_001025367.3:c.*237C>T
ClinVar RefSeq Alternation Syntax
NM_001025370.3:c.*237C>T
ClinVar RefSeq Alternation Syntax
NM_001171625.2:c.*237C>T
ClinVar RefSeq Alternation Syntax
NM_001025366.3:c.*237C>T
ClinVar RefSeq Alternation Syntax
NM_001171626.2:c.*237C>T
ClinVar RefSeq Alternation Syntax
NM_003376.6:c.*237C>T
ClinVar RefSeq Alternation Syntax
NM_001025369.3:c.*253C>T
ClinVar RefSeq Alternation Syntax
NM_001171623.2:c.*237C>T
ClinVar RefSeq Alternation Syntax
NM_001171627.2:c.*253C>T
ClinVar RefSeq Alternation Syntax
NM_001204385.2:c.*237C>T
ClinVar RefSeq Alternation Syntax
NM_001204384.2:c.*237C>T
ClinVar RefSeq Alternation Syntax
NM_001025368.3:c.*237C>T
ClinVar RefSeq Alternation Syntax
NM_001171624.2:c.*237C>T
ClinVar RefSeq Alternation Syntax
NM_001171629.2:c.*171C>T
ClinVar RefSeq Alternation Syntax
NM_001033756.3:c.*171C>T
ClinVar RefSeq Alternation Syntax
NM_001317010.2:c.*171C>T
ClinVar RefSeq Alternation Syntax
NM_001171622.2:c.*237C>T
Clinical Significance Description
other
Clinical Significance Last Update
2022-12-10
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV003312792
ClinVar Disease
Cholangiocarcinoma
Observed Origin Sample
germline
Drugs