ClinVar Genomic variation as it relates to human health
NM_002775.5(HTRA1):c.175_178del (p.Arg59fs)
Germline
Classification
(1)
Pathogenic
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 | |||
ARMS2 | - | - |
GRCh38 GRCh37 |
29 | 91 | |
HTRA1 | - | - |
GRCh38 GRCh37 |
286 | 349 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 2, 2022 | RCV002463470.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 23, 2024