ClinVar Genomic variation as it relates to human health
NM_003059.3(SLC22A4):c.792G>A (p.Thr264=)
Germline
Classification
(1)
Likely benign
no assertion criteria provided
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 | |||
MIR3936HG | - | - | - | GRCh38 | - | 133 |
SLC22A4 | - | - |
GRCh38 GRCh37 |
29 | 157 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
SLC22A4-related disorder
|
Likely benign (1) |
|
Oct 20, 2020 | RCV003894659.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024