ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q31.3(chr1:196301629-196775650)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 | |||
CFH | - | - |
GRCh38 GRCh38 GRCh37 |
813 | 841 | |
CFHR3 | - | - |
GRCh38 GRCh37 |
71 | 109 | |
KCNT2 | - | - |
GRCh38 GRCh38 GRCh37 |
145 | 172 | |
LOC129388720 | - | - | - |
GRCh38 GRCh38 |
- | 6 |
LOC129388721 | - | - | - |
GRCh38 GRCh38 |
- | 7 |
LOC129932153 | - | - | - |
GRCh38 GRCh38 |
- | 7 |
MIR4735 | - | - | - |
GRCh38 GRCh38 |
- | 6 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 1, 2012 | RCV000143144.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024