ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q21.3(chr1:151858531-152298574)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
CCDST | - | - | - | GRCh38 | - | 1453 |
HRNR | - | - |
GRCh38 GRCh37 |
- | 49 | |
LOC100131107 | - | - | - | GRCh38 | - | 2 |
LOC108254671 | - | - | - | GRCh38 | - | 2 |
LOC121725056 | - | - | - | GRCh38 | - | 2 |
LOC122128426 | - | - | - | GRCh38 | - | 2 |
LOC122128427 | - | - | - | GRCh38 | - | 2 |
LOC122128428 | - | - | - | GRCh38 | - | 2 |
LOC126805861 | - | - | - | GRCh38 | - | 2 |
LOC126805862 | - | - | - | GRCh38 | - | 2 |
There are 15 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Mar 18, 2014 | RCV000143761.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024