Annotation Detail
Information
- Associated Genes
- PMS2
- Associated Variants
-
PMS2 c.705+17A>G
(
ENST00000265849.12,
ENST00000382321.5,
ENST00000642292.1,
ENST00000642456.1,
ENST00000699752.1,
ENST00000699754.1,
ENST00000699760.1,
ENST00000699761.1,
ENST00000699762.1,
ENST00000699766.1,
ENST00000699768.1,
ENST00000699811.1,
ENST00000699818.1,
ENST00000699821.1,
ENST00000699823.1,
ENST00000699825.1,
ENST00000699827.1,
ENST00000699837.1,
ENST00000699839.1,
ENST00000699840.2,
ENST00000699930.2 )
PMS2 c.705+17A>G ( ENST00000265849.12, ENST00000382321.5, ENST00000642292.1, ENST00000642456.1, ENST00000699752.1, ENST00000699754.1, ENST00000699760.1, ENST00000699761.1, ENST00000699762.1, ENST00000699766.1, ENST00000699768.1, ENST00000699811.1, ENST00000699818.1, ENST00000699821.1, ENST00000699823.1, ENST00000699825.1, ENST00000699827.1, ENST00000699837.1, ENST00000699839.1, ENST00000699840.2, ENST00000699930.2 ) - Associated Disease
- Lynch syndrome
- Source Database
- ClinVar
- Description
- NM_000535.7(PMS2):c.705+17A>G AND Lynch syndrome
- ClinVar Allele ID
- 45353
- ClinVar RefSeq Alternation Syntax
- NM_001322013.2:c.133-1668A>G
- ClinVar RefSeq Alternation Syntax
- NM_001322011.2:c.-229+17A>G
- ClinVar RefSeq Alternation Syntax
- NM_001322006.2:c.705+17A>G
- ClinVar RefSeq Alternation Syntax
- NM_001322008.2:c.387+17A>G
- ClinVar RefSeq Alternation Syntax
- NM_000535.7:c.705+17A>G
- ClinVar RefSeq Alternation Syntax
- NM_001322014.2:c.705+17A>G
- ClinVar RefSeq Alternation Syntax
- NM_001322003.2:c.300+17A>G
- ClinVar RefSeq Alternation Syntax
- NM_001322007.2:c.387+17A>G
- ClinVar RefSeq Alternation Syntax
- NM_001322009.2:c.300+17A>G
- ClinVar RefSeq Alternation Syntax
- NM_001322010.2:c.300+17A>G
- ClinVar RefSeq Alternation Syntax
- NM_001322012.2:c.-229+17A>G
- ClinVar RefSeq Alternation Syntax
- NM_001322004.2:c.300+17A>G
- ClinVar RefSeq Alternation Syntax
- NM_001322005.2:c.300+17A>G
- ClinVar RefSeq Alternation Syntax
- NM_001322015.2:c.396+17A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2013-09-05
- Clinical Significance Review Status
- reviewed by expert panel
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000030371
- ClinVar Disease
- Lynch syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- not provided
Drugs