ClinVar Genomic variation as it relates to human health
NM_003038.5(SLC1A4):c.1120G>A (p.Gly374Arg)
Germline
Classification
(1)
Likely pathogenic
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 | |||
LINC02245 | - | - | - | GRCh38 | - | 5 |
SLC1A4 | - | - |
GRCh38 GRCh37 |
374 | 393 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Aug 11, 2023 | RCV003320284.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 19, 2023