Annotation Detail
Information
- Associated Genes
- MSH2
- Associated Variants
-
MSH2 c.1662-1G>A
(
ENST00000233146.7,
ENST00000406134.5,
ENST00000543555.6,
ENST00000645506.1,
ENST00000713854.1,
ENST00000713919.1 )
MSH2 c.1662-1G>A ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 ) - Associated Disease
- Mismatch repair cancer syndrome 2
- Source Database
- ClinVar
- Description
- NM_000251.3(MSH2):c.1662-1G>A AND Mismatch repair cancer syndrome 2
- ClinVar Allele ID
- 96202
- ClinVar RefSeq Alternation Syntax
- NM_001406674.1:c.1662-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_000251.3:c.1662-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406632.1:c.1662-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406637.1:c.1662-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406645.1:c.1662-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406640.1:c.1662-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406660.1:c.306-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406654.1:c.1242-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406669.1:c.306-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406647.1:c.1512-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406661.1:c.306-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406662.1:c.306-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406655.1:c.1662-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406643.1:c.1662-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001258281.1:c.1464-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406634.1:c.1662-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406639.1:c.1662-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406651.1:c.1512-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406658.1:c.306-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406659.1:c.306-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406644.1:c.1662-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406641.1:c.1662-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406657.1:c.1662-4061G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406649.1:c.1512-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406653.1:c.1602-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406648.1:c.1662-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406642.1:c.1662-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406635.1:c.1662-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406638.1:c.1701-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406652.1:c.1512-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406633.1:c.1662-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406631.1:c.1662-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406636.1:c.1629-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406650.1:c.1512-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406656.1:c.765-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406646.1:c.1662-1G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2002-01-15
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000001836
- ClinVar Disease
- Mismatch repair cancer syndrome 2
- Observed Origin Sample
- germline
- Pubmed
- 11809679
Drugs