ClinVar Genomic variation as it relates to human health
NM_022350.5(ERAP2):c.2594G>A (p.Arg865His)
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 | |||
ERAP1 | - | - |
GRCh38 GRCh37 |
111 | 268 | |
ERAP2 | - | - |
GRCh38 GRCh37 |
- | 98 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 28, 2022 | RCV004193498.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024