ClinVar Genomic variation as it relates to human health
NM_014604.4(TAX1BP3):c.368T>C (p.Leu123Pro)
Germline
Classification
(1)
Benign
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 | |||
P2RX5-TAX1BP3 | - | - | - | GRCh38 | - | 102 |
TAX1BP3 | - | - |
GRCh38 GRCh37 |
- | 88 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Jan 22, 2024 | RCV003118491.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 29, 2024