ClinVar Genomic variation as it relates to human health
NM_001918.3(DBT):c.434_435insAATACCTTGTTACCAGA
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 | |||
DBT | - | - |
GRCh38 GRCh37 |
792 | 805 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Feb 1, 1991 | RCV003581559.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024
NCBI staff reviewed the sequence information reported in PubMed 1847055 Fig. 1 to determine the location of this allele on the current reference sequence.
As described in PubMed 1847055, this may be caused by mutation in a cryptic 3'-acceptor splice site in intron 4, causing insertion of a 17-nt intronic sequence between exons 4 and 5 of DBT.