Annotation Detail
Information
- Associated Genes
- ABCA12
- Associated Variants
-
ABCA12 p.Leu1376= (p.L1376=)
(
ENST00000272895.12,
ENST00000389661.4 )
ABCA12 p.Leu1376= (p.L1376=) ( ENST00000272895.12, ENST00000389661.4 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_173076.3(ABCA12):c.4126T>C (p.Leu1376=) AND not provided
- ClinVar Allele ID
- 250550
- ClinVar RefSeq Alternation Syntax
- NM_015657.4:c.3172T>C
- ClinVar RefSeq Alternation Syntax
- NR_103740.2:n.4624T>C
- ClinVar RefSeq Alternation Syntax
- NM_173076.3:c.4126T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001640583
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs