ClinVar Genomic variation as it relates to human health
NM_000209.4(PDX1):c.448C>T (p.Arg150Cys)
Germline
Classification
(1)
Uncertain significance
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 | |||
PDX1 | - | - |
GRCh38 GRCh37 |
162 | 198 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
PDX1-related disorder
|
Uncertain significance (1) |
|
Sep 3, 2023 | RCV004550661.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 11, 2024