ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p33(chr1:48634520-49615901)x1
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 | |||
AGBL4 | - | - |
GRCh38 GRCh37 |
55 | 100 | |
AGBL4-AS1 | - | - | - | GRCh38 | - | 6 |
AGBL4-IT1 | - | - | - | GRCh38 | - | 7 |
BEND5 | - | - | - |
GRCh38 GRCh37 |
- | 34 |
LOC129930503 | - | - | - | GRCh38 | - | 3 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 7, 2015 | RCV000225106.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023