ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p36.31(chr1:5554106-5969826)x4
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 | |||
LOC108281186 | - | - | - | GRCh38 | - | 26 |
LOC121677385 | - | - | - | GRCh38 | - | 24 |
LOC121967055 | - | - | - | GRCh38 | - | 26 |
LOC129388426 | - | - | - | GRCh38 | - | 24 |
MIR4689 | - | - | - | GRCh38 | - | 24 |
NPHP4 | - | - |
GRCh38 GRCh37 |
1616 | 1687 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Apr 30, 2011 | RCV000140054.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023