ClinVar Genomic variation as it relates to human health
NM_000485.3(APRT):c.188-145_296delinsTTCCCGTA
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 | |||
APRT | - | - |
GRCh38 GRCh37 |
130 | 249 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 1, 1997 | RCV000019963.28 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 13, 2023
NCBI staff provided HGVS expressions for allelic variant 102600.0008 from the sequence reported in Figure 2 of the paper by Menardi et al., 1997 (PubMed 9298830).