Annotation Detail
Information
- Associated Genes
- MSH6
- Associated Variants
-
MSH6 p.Gly39Ala (p.G39A)
(
ENST00000234420.11,
ENST00000540021.6,
ENST00000652107.1,
ENST00000673637.1,
ENST00000700000.1,
ENST00000700002.1,
ENST00000700004.2 )
MSH6 p.Gly39Ala (p.G39A) ( ENST00000234420.11, ENST00000540021.6, ENST00000652107.1, ENST00000673637.1, ENST00000700000.1, ENST00000700002.1, ENST00000700004.2 ) - Associated Disease
- Lynch syndrome
- Source Database
- ClinVar
- Description
- NM_000179.3(MSH6):c.116G>C (p.Gly39Ala) AND Lynch syndrome
- ClinVar Allele ID
- 405835
- ClinVar RefSeq Alternation Syntax
- NM_001281493.2:c.-621G>C
- ClinVar RefSeq Alternation Syntax
- NM_000179.3:c.116G>C
- ClinVar RefSeq Alternation Syntax
- NM_001281492.2:c.116G>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-06-26
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004002284
- ClinVar Disease
- Lynch syndrome
- Observed Origin Sample
- germline
Drugs