ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q23.2(chr1:160059626-160217512)x3
Germline
Classification
(1)
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 | |||
ATP1A2 | - | - |
GRCh38 GRCh37 |
1196 | 1306 | |
ATP1A4 | - | - |
GRCh38 GRCh37 |
50 | 67 | |
CASQ1 | - | - |
GRCh38 GRCh37 |
293 | 307 | |
DCAF8 | - | - |
GRCh38 GRCh37 |
38 | 51 | |
IGSF8 | - | - |
GRCh38 GRCh37 |
36 | 51 | |
KCNJ10 | - | - |
GRCh38 GRCh37 |
379 | 398 | |
KCNJ9 | - | - |
GRCh38 GRCh37 |
6 | 21 | |
LOC112577506 | - | - | - | GRCh38 | - | 6 |
LOC126805890 | - | - | - | GRCh38 | - | 99 |
LOC126805891 | - | - | - | GRCh38 | - | 7 |
There are 10 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 |
---|---|---|---|---|
Benign (1) |
|
Jan 30, 2010 | RCV000136816.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023