ClinVar Genomic variation as it relates to human health
NC_000008.11:g.(142876396_142876681)_(142914419_142914704)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 | |||
CYP11B1 | - | - |
GRCh38 GRCh37 |
207 | 889 | |
CYP11B2 | - | - |
GRCh38 GRCh37 |
19 | 729 | |
LOC106799833 | - | - | - | GRCh38 | - | 608 |
LOC106799834 | - | - | - | GRCh38 | - | 667 |
LOC110673972 | - | - | - | GRCh38 | - | 58 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 1, 2001 | RCV000001241.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024
NCBI staff provided an indeterminate HGVS expression for OMIM allelic variant 610613.0012 based on this description in the paper Hampf et al., 2001 (PubMed 11549691): a chimeric fusion gene composed of the promoter and exon 1 to exon 4 of CYP11B2 and intron 4 to exon 9 of CYP11B1.