ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12q24.33(chr12:131973151-132102145)x1
Germline
Classification
(1)
Likely benign
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 | |||
EP400 | - | - |
GRCh38 GRCh37 |
368 | 435 | |
LOC124849291 | - | - | - | GRCh38 | - | 24 |
LOC126861695 | - | - | - | GRCh38 | - | 23 |
LOC126861696 | - | - | - | GRCh38 | - | 10 |
LOC130009243 | - | - | - | GRCh38 | - | 10 |
LOC130009244 | - | - | - | GRCh38 | - | 10 |
SNORA49 | - | - | - | GRCh38 | - | 10 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely benign (1) |
|
Aug 5, 2011 | RCV000137285.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024