ClinVar Genomic variation as it relates to human health
NG_029843.1:g.23704_55438del
Germline
Classification
(2)
Pathogenic
criteria provided, single submitter
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 | |||
NR1H4 | - | - |
GRCh38 GRCh37 |
122 | 134 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 17, 2015 | RCV000240814.1 | |
Pathogenic (1) |
|
Jul 27, 2016 | RCV003231403.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 17, 2023
NCBI staff provided HGVS expressions for allelic variant 603826.0003 based on the sequence across the breakpoint reported in Figure 2 of the paper by Gomez-Ospina et al., 2016 (PubMed 26888176).