ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6q27(chr6:170425647-170567808)x4
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 | |||
LOC108663996 | - | - | - | GRCh38 | - | 71 |
LOC110121051 | - | - | - |
GRCh38 GRCh38 |
- | 37 |
LOC123881371 | - | - | - |
GRCh38 GRCh38 |
- | 37 |
LOC126859915 | - | - | - |
GRCh38 GRCh38 |
1 | 40 |
LOC129997715 | - | - | - | GRCh38 | - | 39 |
LOC129997716 | - | - | - | GRCh38 | - | 39 |
PSMB1 | - | - |
GRCh38 GRCh37 |
9 | 103 | |
TBP | - | - |
GRCh38 GRCh37 |
15 | 140 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Aug 5, 2011 | RCV000137334.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024