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
- Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) AND Hereditary cancer-predisposing syndrome
- 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 Last Update
- 2019-12-11
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000132091
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs