ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16p13.3(chr16:3515534-3749385)x3
Germline
Classification
(1)
Uncertain significance
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 |
2192 | 2303 | |
DNASE1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
42 | 224 | |
CLUAP1 | - | - |
GRCh38 GRCh37 |
366 | 434 | |
LOC130058342 | - | - | - | GRCh38 | - | 13 |
LOC130058343 | - | - | - | GRCh38 | - | 13 |
LOC130058344 | - | - | - | GRCh38 | - | 13 |
LOC130058345 | - | - | - | GRCh38 | - | 13 |
LOC130058346 | - | - | - | GRCh38 | - | 14 |
LOC130058347 | - | - | - | GRCh38 | - | 18 |
LOC130058348 | - | - | - | GRCh38 | - | 14 |
There are 7 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Apr 4, 2013 | RCV000140839.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024