ClinVar Genomic variation as it relates to human health
NM_007120.3(UGT1A4):c.751T>C (p.Tyr251His)
Germline
Classification
(1)
Likely 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 | |||
UGT1A | - | - | - | GRCh38 | - | 573 |
UGT1A10 | - | - |
GRCh38 GRCh37 |
- | 575 | |
UGT1A4 | - | - |
GRCh38 GRCh37 |
- | 408 | |
UGT1A5 | - | - |
GRCh38 GRCh37 |
- | 426 | |
UGT1A6 | - | - |
GRCh38 GRCh37 |
- | 469 | |
UGT1A7 | - | - |
GRCh38 GRCh37 |
- | 521 | |
UGT1A8 | - | - |
GRCh38 GRCh37 |
- | 603 | |
UGT1A9 | - | - |
GRCh38 GRCh37 |
- | 555 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jan 20, 2023 | RCV004258084.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 18, 2024