Annotation Detail
Information
- Associated Genes
- PMS1
- Associated Variants
-
PMS1 c.-24G>C
(
ENST00000374826.8,
ENST00000409823.7,
ENST00000409985.5,
ENST00000418224.7,
ENST00000432292.7,
ENST00000441310.7,
ENST00000447232.6,
ENST00000618056.4,
ENST00000624204.3 )
PMS1 c.-24G>C ( ENST00000374826.8, ENST00000409823.7, ENST00000409985.5, ENST00000418224.7, ENST00000432292.7, ENST00000441310.7, ENST00000447232.6, ENST00000618056.4, ENST00000624204.3 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000534.5(PMS1):c.-24G>C AND not provided
- ClinVar Allele ID
- 284296
- ClinVar RefSeq Alternation Syntax
- NM_001289409.2:c.-266G>C
- ClinVar RefSeq Alternation Syntax
- NM_001321051.2:c.-24G>C
- ClinVar RefSeq Alternation Syntax
- NM_000534.5:c.-24G>C
- ClinVar RefSeq Alternation Syntax
- NM_001321047.2:c.-201G>C
- ClinVar RefSeq Alternation Syntax
- NM_001289408.2:c.-449G>C
- ClinVar RefSeq Alternation Syntax
- NM_001321049.2:c.-24G>C
- ClinVar RefSeq Alternation Syntax
- NM_001128143.2:c.-24G>C
- ClinVar RefSeq Alternation Syntax
- NM_001321046.2:c.-24G>C
- ClinVar RefSeq Alternation Syntax
- NM_001321044.2:c.-24G>C
- ClinVar RefSeq Alternation Syntax
- NM_001321045.2:c.-150G>C
- ClinVar RefSeq Alternation Syntax
- NM_001128144.2:c.-24G>C
- ClinVar RefSeq Alternation Syntax
- NM_001321048.2:c.-147+26G>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2015-03-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001717030
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs