ClinVar Genomic variation as it relates to human health
NM_000397.4:c.484-262_484-261insLINE1
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 | |||
CYBB | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
685 | 864 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 1, 2000 | RCV000011681.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2024
NCBI staff provided HGVS expressions for OMIM allelic variant 300481.0014 from the sequence reported in Figure 2 of the paper by . Meischl et al., 2000 (PubMed 10980575).