ClinVar Genomic variation as it relates to human health
NM_145806.4(ZNF511):c.185A>C (p.Gln62Pro)
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | |||
LOC111946221 | - | - | - | GRCh38 | - | 50 |
TUBGCP2 | - | - |
GRCh38 GRCh37 |
102 | 262 | |
ZNF511 | - | - | - |
GRCh38 GRCh37 |
- | 130 |
ZNF511-PRAP1 | - | - | - | GRCh38 | - | 83 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 2, 2023 | RCV004333449.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024