ClinVar Genomic variation as it relates to human health
NM_005321.3(H1-4):c.548A>G (p.Lys183Arg)
Germline
Classification
(2)
Likely benign
criteria provided, multiple submitters, no conflicts
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 | |||
H1-4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
142 | 158 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Nov 21, 2023 | RCV003493217.2 | |
Likely benign (1) |
|
May 19, 2021 | RCV004364898.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024