Annotation Detail
Information
- Associated Genes
- MSH6
- Associated Variants
-
MSH6 p.Gly39Glu (p.G39E)
(
ENST00000540021.6,
ENST00000234420.11,
ENST00000652107.1,
ENST00000673637.1,
ENST00000700000.1,
ENST00000700002.1,
ENST00000700004.2 )
MSH6 p.Gly39Glu (p.G39E) ( ENST00000234420.11, ENST00000540021.6, ENST00000652107.1, ENST00000673637.1, ENST00000700000.1, ENST00000700002.1, ENST00000700004.2 ) - Associated Disease
- Carcinoma of colon
- Source Database
- ClinVar
- Description
- NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) AND Carcinoma of colon
- ClinVar Allele ID
- 45243
- ClinVar RefSeq Alternation Syntax
- NM_001281493.2:c.-621G>A
- ClinVar RefSeq Alternation Syntax
- NM_000179.3:c.116G>A
- ClinVar RefSeq Alternation Syntax
- NM_001281492.2:c.116G>A
- Clinical Significance Description
- Benign
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001353505
- ClinVar Disease
- Carcinoma of colon
- Observed Origin Sample
- unknown
Drugs