ClinVar Genomic variation as it relates to human health
NM_020144.5(PAPOLB):c.1259A>G (p.Gln420Arg)
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 | |||
PAPOLB | - | - |
GRCh38 GRCh37 |
- | 89 | |
RADIL | - | - |
GRCh38 GRCh37 |
116 | 208 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 6, 2022 | RCV004213603.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 18, 2024