ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q31.3(chr1:194260752-196604554)x1
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 | |||
KCNT2 | - | - |
GRCh38 GRCh38 GRCh37 |
145 | 172 | |
LINC01724 | - | - | - | GRCh38 | - | 9 |
LOC121725067 | - | - | - | GRCh38 | - | 8 |
LOC126805963 | - | - | - | GRCh38 | 1 | 9 |
LOC129388709 | - | - | - | GRCh38 | - | 8 |
LOC129388710 | - | - | - | GRCh38 | - | 8 |
LOC129388711 | - | - | - | GRCh38 | - | 8 |
LOC129388712 | - | - | - | GRCh38 | - | 7 |
LOC129388713 | - | - | - | GRCh38 | - | 7 |
LOC129388714 | - | - | - | GRCh38 | 1 | 8 |
There are 8 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 2, 2012 | RCV000139642.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024