ClinVar Genomic variation as it relates to human health
NM_006237.4(POU4F1):c.472_486del (p.Gly158_Gly162del)
Germline
Classification
(1)
Likely benign
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 | |||
OBI1-AS1 | - | - | - | GRCh38 | - | 132 |
POU4F1 | - | - |
GRCh38 GRCh37 |
2 | 138 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
POU4F1-related disorder
|
Likely benign (1) |
|
Jan 5, 2023 | RCV003937109.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024