Annotation Detail
Information
- Associated Genes
- MSH6
- Associated Variants
-
MSH6 p.Glu277Asp (p.E277D)
(
ENST00000234420.11,
ENST00000411819.2,
ENST00000420813.6,
ENST00000455383.6,
ENST00000540021.6,
ENST00000652107.1,
ENST00000673637.1,
ENST00000700000.1,
ENST00000700002.1,
ENST00000700004.2,
ENST00000405808.5 )
MSH6 p.Glu277Asp (p.E277D) ( ENST00000234420.11, ENST00000411819.2, ENST00000420813.6, ENST00000455383.6, ENST00000540021.6, ENST00000652107.1, ENST00000673637.1, ENST00000700000.1, ENST00000700002.1, ENST00000700004.2, ENST00000405808.5 ) - Associated Disease
- MSH6-related disorder
- Source Database
- ClinVar
- Description
- NM_000179.3(MSH6):c.831A>C (p.Glu277Asp) AND MSH6-related disorder
- ClinVar Allele ID
- 180045
- ClinVar RefSeq Alternation Syntax
- NM_001281494.2:c.-76A>C
- ClinVar RefSeq Alternation Syntax
- NM_001281493.2:c.-76A>C
- ClinVar RefSeq Alternation Syntax
- NM_001281492.2:c.441A>C
- ClinVar RefSeq Alternation Syntax
- NM_000179.3:c.831A>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-08-23
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004535042
- ClinVar Disease
- MSH6-related disorder
- Observed Origin Sample
- germline
Drugs