ClinVar Genomic variation as it relates to human health
NM_001040458.3(ERAP1):c.2542C>T (p.Leu848=)
Germline
Classification
(1)
Benign
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 | |
LOC126807458 | - | - | - | GRCh38 | - | 20 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Jan 24, 2024 | RCV003490413.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 23, 2024