ClinVar Genomic variation as it relates to human health
NC_000014.9:g.(?_54842017)_(54902826_?)del
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 | |||
GCH1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
440 | 538 | |
LOC130055686 | - | - | - | GRCh38 | - | 8 |
LOC130055687 | - | - | - | GRCh38 | - | 8 |
LOC130055688 | - | - | - | GRCh38 | - | 11 |
LOC130055689 | - | - | - | GRCh38 | - | 8 |
LOC130055690 | - | - | - | GRCh38 | - | 9 |
LOC130055691 | - | - | - | GRCh38 | - | 8 |
LOC130055692 | - | - | - | GRCh38 | - | 79 |
MIR4308 | - | - | - | GRCh38 | - | 8 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 1, 2007 | RCV000009874.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2024