ClinVar Genomic variation as it relates to human health
NM_001012417.3(MS4A13):c.414A>C (p.Gln138His)
Germline
Classification
(1)
Uncertain significance
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 | |||
MS4A13 | - | - | - |
GRCh38 GRCh37 |
8 | 19 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 31, 2023 | RCV004303885.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 02, 2024