ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5p15.33(chr5:692766-795659)x3
Germline
Classification
(1)
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 | |||
LOC129993564 | - | - | - | GRCh38 | - | 69 |
LOC129993565 | - | - | - | GRCh38 | - | 74 |
LOC129993566 | - | - | - | GRCh38 | - | 74 |
LOC129993567 | - | - | - | GRCh38 | - | 74 |
LOC132089303 | - | - | - | GRCh38 | - | 74 |
TPPP | - | - |
GRCh38 GRCh37 |
7 | 189 | |
ZDHHC11 | - | - | - |
GRCh38 GRCh37 |
63 | 227 |
ZDHHC11B | - | - | - |
GRCh38 GRCh37 |
2 | 167 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Feb 6, 2013 | RCV000136177.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024