Annotation Detail

Information
Associated Genes
ABCG2
Associated Variants
ABCG2 p.Gln141Lys (p.Q141K) ( ENST00000237612.8, ENST00000515655.5, ENST00000650821.1 )
ABCG2 p.Gln141Lys (p.Q141K) ( ENST00000237612.8, ENST00000515655.5, ENST00000650821.1 )
Associated Disease
Neoplasm of ovary
Source Database
ClinVar
Description
NM_004827.3(ABCG2):c.421C>A (p.Gln141Lys) AND Neoplasm of ovary
ClinVar Allele ID
39346
ClinVar RefSeq Alternation Syntax
NM_004827.3:c.421C>A
ClinVar RefSeq Alternation Syntax
NM_001348987.1:c.421C>A
ClinVar RefSeq Alternation Syntax
NM_001348989.2:c.421C>A
ClinVar RefSeq Alternation Syntax
NM_001257386.2:c.421C>A
ClinVar RefSeq Alternation Syntax
NM_001348985.1:c.421C>A
ClinVar RefSeq Alternation Syntax
NM_001348986.1:c.421C>A
ClinVar RefSeq Alternation Syntax
NM_001348988.1:c.421C>A
Clinical Significance Description
not provided
Clinical Significance Last Update
2016-03-10
Clinical Significance Review Status
no assertion provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000419593
ClinVar Disease
Neoplasm of ovary
Observed Origin Sample
somatic
Drugs