ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17q24.3(chr17:70089117-71111424)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 | |||
CASC17 | - | - | - | GRCh38 | - | 7 |
KCNJ16 | - | - |
GRCh38 GRCh37 |
30 | 49 | |
KCNJ2 | - | - |
GRCh38 GRCh37 |
577 | 600 | |
KCNJ2-AS1 | - | - | - | GRCh38 | - | 9 |
LOC108021840 | - | - | - | GRCh38 | - | 8 |
LOC110121373 | - | - | - | GRCh38 | - | 7 |
LOC126862626 | - | - | - | GRCh38 | - | 7 |
LOC126862627 | - | - | - | GRCh38 | - | 7 |
LOC126862628 | - | - | - | GRCh38 | - | 7 |
LOC129390930 | - | - | - |
GRCh38 GRCh38 |
- | 7 |
There are 4 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 |
---|---|---|---|---|
Likely benign (1) |
|
Jan 25, 2013 | RCV000141126.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024