ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q44(chr1:244785943-245030221)x3
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 | |||
HNRNPU | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
934 | 1062 | |
CATSPERE | - | - |
GRCh38 GRCh37 |
7 | 114 | |
COX20 | - | - |
GRCh38 GRCh37 |
80 | 221 | |
DESI2 | - | - |
GRCh38 GRCh37 |
6 | 107 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 21, 2017 | RCV000684724.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022