Annotation Detail
Information
- Associated Genes
- VPS13B
- Associated Variants
-
VPS13B p.Ser3901ArgfsTer40 (p.S3901Rfs*40)
(
ENST00000358544.7,
ENST00000357162.7 )
VPS13B p.Ser3901ArgfsTer40 (p.S3901Rfs*40) ( ENST00000357162.7, ENST00000358544.7 ) - Associated Disease
- Cohen syndrome
- Source Database
- ClinVar
- Description
- NM_152564.5(VPS13B):c.11620_11623del (p.Ser3876fs) AND Cohen syndrome
- ClinVar Allele ID
- 71279
- ClinVar RefSeq Alternation Syntax
- NM_017890.5:c.11695_11698del
- ClinVar RefSeq Alternation Syntax
- NM_152564.5:c.11620_11623del
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2023-05-16
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000050053
- ClinVar Disease
- Cohen syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- not provided
- Observed Origin Sample
- unknown
Drugs