ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q42.13(chr1:228456544-228716927)x3
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 | |||
BTNL10 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 45 |
H2AW | - | - |
GRCh38 GRCh38 GRCh37 |
- | 6 | |
H2BU1 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 6 | |
H3-4 | - | - |
GRCh38 GRCh38 GRCh37 |
20 | 65 | |
OBSCN | - | - |
GRCh38 GRCh37 |
3605 | 3873 | |
RNF187 | - | - |
GRCh38 GRCh38 GRCh37 |
13 | 58 | |
TRIM11 | - | - |
GRCh38 GRCh37 |
20 | 65 | |
TRIM17 | - | - |
GRCh38 GRCh38 GRCh37 |
33 | 78 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jan 20, 2021 | RCV001259113.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022