ClinVar Genomic variation as it relates to human health
NM_016354.4(SLCO4A1):c.1468G>A (p.Gly490Arg)
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 | |||
SLCO4A1 | - | - |
GRCh38 GRCh37 |
52 | 99 | |
SLCO4A1-AS1 | - | - | - | GRCh38 | - | 22 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
May 9, 2023 | RCV004321169.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024