ClinVar Genomic variation as it relates to human health
NC_000001.10:g.(196712876_196712928)_(196797494_196797546)del
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 | |||
CFH | - | - |
GRCh38 GRCh38 GRCh37 |
814 | 842 | |
CFHR1 | - | - |
GRCh38 GRCh37 |
86 | 127 | |
CFHR3 | - | - |
GRCh38 GRCh37 |
71 | 109 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 10, 2011 | RCV000020179.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022
Deletion from intron 22 of CFH (NG_007259.1) to intron 4 of CFHR1 (NG_013060.1) resulting in hybrid allele CFH/CFHR1