ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q44(chr1:244379481-249224684)x1
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 | |||
HNRNPU | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
930 | 1053 | |
ADSS2 | - | - |
GRCh38 GRCh37 |
14 | 114 | |
AHCTF1 | - | - |
GRCh38 GRCh37 |
116 | 209 | |
CATSPERE | - | - |
GRCh38 GRCh37 |
7 | 110 | |
CNST | - | - |
GRCh38 GRCh37 |
23 | 143 | |
COX20 | - | - |
GRCh38 GRCh37 |
78 | 214 | |
DESI2 | - | - |
GRCh38 GRCh37 |
5 | 102 | |
EFCAB2 | - | - |
GRCh38 GRCh37 |
5 | 111 | |
GCSAML | - | - | - |
GRCh38 GRCh37 |
3 | 106 |
KIF26B | - | - |
GRCh38 GRCh38 GRCh37 |
237 | 365 |
There are 57 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 20, 2017 | RCV000845861.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023