ClinVar Genomic variation as it relates to human health
NR_039884.1(MIR4731):n.(?_-9031)_(1_70)del
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 | |||
PMP22 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
409 | 527 | |
MIR4731 | - | - | - | GRCh38 | - | 39 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 15, 2008 | RCV000008960.6 | |
Pathogenic (1) |
|
Sep 15, 2008 | RCV000008961.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 10, 2024
Deletion of exons 2 and 3 from the transcript of gene PMP22.