ClinVar Genomic variation as it relates to human health
NM_001301131.1(POLR2F):c.294-27388_*10734del
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 | |||
SOX10 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 419 | |
LOC110120882 | - | - | - | GRCh38 | - | 9 |
LOC110120883 | - | - | - | GRCh38 | - | 9 |
LOC126863146 | - | - | - | GRCh38 | - | 9 |
LOC130067396 | - | - | - | GRCh38 | - | 9 |
POLR2F | - | - |
GRCh38 GRCh37 |
4 | 425 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 11, 2013 | RCV000144842.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023
38,147-nt deletion spanning 3'-terminal exon of gene POLR2F transcript NM_001301131.1 plus flanking genomic sequences.