ClinVar Genomic variation as it relates to human health
NM_139248.3(LIPH):c.886+405_1094+962del
Germline
Classification
(2)
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 | |||
LIPH | - | - |
GRCh38 GRCh37 |
77 | 123 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 1, 2009 | RCV000003467.2 | |
Pathogenic (1) |
|
Mar 1, 2009 | RCV000003466.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 30, 2022
NCBI staff provided an HGVS expression for allelic variant 607365.0004 from the sequence provided in Figure S3e of the paper by Shimomura et al., 2009 (PubMed 18830268).