ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q25.3(chr1:180818504-181422323)x3
Germline
Classification
(1)
Likely benign
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 | |||
IER5 | - | - |
GRCh38 GRCh37 |
13 | 55 | |
KIAA1614 | - | - | - |
GRCh38 GRCh37 |
112 | 149 |
MR1 | - | - |
GRCh38 GRCh37 |
31 | 64 | |
STX6 | - | - |
GRCh38 GRCh37 |
17 | 50 | |
XPR1 | - | - |
GRCh38 GRCh37 |
241 | 275 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jun 5, 2018 | RCV001005159.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022