Annotation Detail
Information
- Associated Genes
- PSTPIP1
- Associated Variants
-
PSTPIP1 c.36+68G>A
(
ENST00000379595.7,
ENST00000558012.6,
ENST00000559295.5 )
PSTPIP1 c.36+68G>A ( ENST00000379595.7, ENST00000558012.6, ENST00000559295.5 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_003978.5(PSTPIP1):c.36+68G>A AND not specified
- ClinVar Allele ID
- 1172770
- ClinVar RefSeq Alternation Syntax
- NM_001321136.2:c.-211+68G>A
- ClinVar RefSeq Alternation Syntax
- NM_003978.5:c.36+68G>A
- ClinVar RefSeq Alternation Syntax
- NM_001321135.2:c.36+68G>A
- ClinVar RefSeq Alternation Syntax
- NM_001321137.1:c.231+68G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-11-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003394121
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs