Annotation Detail
Information
- Associated Genes
- ABCA7
- Associated Variants
-
ABCA7 p.Ile1690Thr (p.I1690T)
(
ENST00000263094.11 )
ABCA7 p.Ile1690Thr (p.I1690T) ( ENST00000263094.11 ) - Associated Disease
- ABCA7-related disorder
- Source Database
- ClinVar
- Description
- NM_019112.4(ABCA7):c.5069T>C (p.Ile1690Thr) AND ABCA7-related disorder
- ClinVar Allele ID
- 1687310
- ClinVar RefSeq Alternation Syntax
- NM_019112.4:c.5069T>C
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2019-06-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003903649
- ClinVar Disease
- ABCA7-related disorder
- Observed Origin Sample
- germline
Drugs