Annotation Detail
Information
- Associated Genes
- MSH5 MSH5-SAPCD1
- Associated Variants
-
MSH5-SAPCD1 p.Pro29Ser (p.P29S), MSH5 p.Pro29Ser (p.P29S)
(
ENST00000375703.7,
ENST00000375740.7,
ENST00000375750.9,
ENST00000375755.8,
ENST00000493662.6 )
MSH5-SAPCD1 p.Pro29Ser (p.P29S), MSH5 p.Pro29Ser (p.P29S) ( ENST00000375703.7, ENST00000375740.7, ENST00000375750.9, ENST00000375755.8, ENST00000493662.6 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_172166.4(MSH5):c.85C>T (p.Pro29Ser) AND not specified
- ClinVar Allele ID
- 389751
- ClinVar RefSeq Alternation Syntax
- NM_172166.4:c.85C>T
- ClinVar RefSeq Alternation Syntax
- NR_037846.1:n.213C>T
- ClinVar RefSeq Alternation Syntax
- NM_025259.6:c.85C>T
- ClinVar RefSeq Alternation Syntax
- NM_002441.5:c.85C>T
- ClinVar RefSeq Alternation Syntax
- NM_172165.4:c.85C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2016-03-29
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000455959
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs