ClinVar Genomic variation as it relates to human health
NC_000023.11:g.30304157_30306387delinsTGGAAATTATATATATTTCCAAATAAA
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 | |||
NR0B1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
348 | 511 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 1, 2002 | RCV000011721.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 07, 2023
NCBI staff provided an HGVS expression for allelic variant 300473.0026 from locations relative to GenBank U31929.1 and sequence reported in Figure 2 of the paper by Salvi et al.,2022 (PubMed 12213854). It was not clear whether the locations were retained or deleted; they were treated as retained, i.e. the positions of the breakpoints.