ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16p13.3(chr16:3777551-3799207)x3
Germline
Classification
(1)
Likely 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 | |||
CREBBP | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2165 | 2276 | |
LOC130058353 | - | - | - | GRCh38 | - | 32 |
LOC130058354 | - | - | - | GRCh38 | - | 19 |
LOC130058355 | - | - | - | GRCh38 | - | 19 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jul 18, 2014 | RCV000143630.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023