Annotation Detail
Information
- Associated Genes
- MSH6
- Associated Variants
-
MSH6 p.Ala1064Val (p.A1064V)
(
ENST00000234420.11,
ENST00000411819.2,
ENST00000420813.6,
ENST00000455383.6,
ENST00000540021.6,
ENST00000652107.1,
ENST00000673637.1,
ENST00000700000.1,
ENST00000700002.1,
ENST00000700004.2,
ENST00000405808.5 )
MSH6 p.Ala1064Val (p.A1064V) ( ENST00000234420.11, ENST00000411819.2, ENST00000420813.6, ENST00000455383.6, ENST00000540021.6, ENST00000652107.1, ENST00000673637.1, ENST00000700000.1, ENST00000700002.1, ENST00000700004.2, ENST00000405808.5 ) - Associated Disease
- Hereditary nonpolyposis colorectal neoplasms
- Source Database
- ClinVar
- Description
- NM_000179.3(MSH6):c.3191C>T (p.Ala1064Val) AND Hereditary nonpolyposis colorectal neoplasms
- ClinVar Allele ID
- 133038
- ClinVar RefSeq Alternation Syntax
- NM_000179.3:c.3191C>T
- ClinVar RefSeq Alternation Syntax
- NM_001281493.2:c.2285C>T
- ClinVar RefSeq Alternation Syntax
- NM_001281492.2:c.2801C>T
- ClinVar RefSeq Alternation Syntax
- NM_001281494.2:c.2285C>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2023-11-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000691203
- ClinVar Disease
- Hereditary nonpolyposis colorectal neoplasms
- Observed Origin Sample
- germline
Drugs