ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q31.3(chr1:195514309-197896494)x1
Germline
Classification
(1)
Pathogenic
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 | |||
ASPM | - | - |
GRCh38 GRCh37 |
1668 | 1715 | |
CFH | - | - |
GRCh38 GRCh38 GRCh37 |
805 | 833 | |
CFHR1 | - | - |
GRCh38 GRCh37 |
83 | 124 | |
CFHR2 | - | - |
GRCh38 GRCh38 GRCh37 |
43 | 67 | |
CFHR3 | - | - |
GRCh38 GRCh37 |
67 | 105 | |
CFHR4 | - | - |
GRCh38 GRCh38 GRCh37 |
75 | 109 | |
CFHR5 | - | - |
GRCh38 GRCh38 GRCh37 |
206 | 230 | |
CRB1 | - | - |
GRCh38 GRCh37 |
1902 | 1926 | |
DENND1B | - | - |
GRCh38 GRCh37 |
19 | 40 | |
F13B | - | - |
GRCh38 GRCh38 GRCh37 |
106 | 128 |
There are 28 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 30, 2009 | RCV000135432.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023