ClinVar Genomic variation as it relates to human health
NC_000008.11:g.(?_143213218)_(143217170_?)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 | |||
GPIHBP1 | - | - |
GRCh38 GRCh37 |
134 | 199 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 1, 2011 | RCV000133531.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 26, 2023
NCBI staff provided an HGVS expression for allelic variant 612757.0011 from the annotation of GPIHBP1 on GRCh38 and the description as a deletion of the gene. The supplementary materials in the paper by Charriere et al.,2011 (PubMed 21816778) indicated that the loss of only exons 1-3 was verified by PCR.