Annotation Detail
Information
- Associated Genes
- BANK1
- Associated Variants
-
BANK1 p.Arg61His (p.R61H)
(
ENST00000322953.9,
ENST00000428908.5,
ENST00000444316.2,
ENST00000504592.5,
ENST00000508653.5 )
BANK1 p.Arg61His (p.R61H) ( ENST00000322953.9, ENST00000428908.5, ENST00000444316.2, ENST00000504592.5, ENST00000508653.5 ) - Associated Disease
- Variant of unknown significance
- Source Database
- ClinVar
- Description
- NM_017935.5(BANK1):c.182G>A (p.Arg61His) AND Variant of unknown significance
- ClinVar Allele ID
- 16308
- ClinVar RefSeq Alternation Syntax
- NM_017935.5:c.182G>A
- ClinVar RefSeq Alternation Syntax
- NM_001127507.3:c.71-25116G>A
- ClinVar RefSeq Alternation Syntax
- NM_001083907.3:c.92G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-09-15
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003328146
- ClinVar Disease
- Variant of unknown significance
- Observed Origin Sample
- germline
- Pubmed
- 18204447
Drugs