ClinVar Genomic variation as it relates to human health
NM_022154.5(SLC39A8):c.[97G>A;1004G>C]
Germline
Classification
(1)
Pathogenic
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 | |||
LOC126807125 | - | - | - | GRCh38 | - | 56 |
LOC129992876 | - | - | - | GRCh38 | - | 25 |
SLC39A8 | - | - |
GRCh38 GRCh37 |
112 | 209 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 3, 2015 | RCV000203237.11 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 25, 2024