ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11q13.4(chr11:73570217-73687662)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 | |||
COA4 | - | - |
GRCh38 GRCh37 |
4 | 27 | |
DNAJB13 | - | - |
GRCh38 GRCh37 |
155 | 182 | |
MRPL48 | - | - |
GRCh38 GRCh37 |
7 | 31 | |
PAAF1 | - | - |
GRCh38 GRCh37 |
23 | 47 | |
UCP2 | - | - |
GRCh38 GRCh37 |
70 | 89 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely benign (1) |
|
- | RCV000447896.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024