ClinVar Genomic variation as it relates to human health
NM_005502.4(ABCA1):c.6729C>T (p.Asp2243=)
Germline
Classification
(1)
Likely benign
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
ABCA1 | - | - |
GRCh38 GRCh37 |
1156 | 1471 | |
NIPSNAP3B | - | - |
GRCh38 GRCh37 |
19 | 298 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Feb 18, 2024 | RCV004521465.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024