Annotation Detail

Information
Associated Genes
MTHFR
Associated Variants
MTHFR p.Ala263Val (p.A263V) ( ENST00000376585.6, ENST00000376583.7, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR p.Ala263Val (p.A263V) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
Associated Disease
Neoplasm of stomach
Source Database
ClinVar
Description
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) AND Neoplasm of stomach
ClinVar Allele ID
18559
ClinVar RefSeq Alternation Syntax
NM_001330358.2:c.788C>T
ClinVar RefSeq Alternation Syntax
NM_005957.5:c.665C>T
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/RCV000427078
ClinVar Disease
Neoplasm of stomach
Observed Origin Sample
somatic
Drugs