ClinVar Genomic variation as it relates to human health
NM_000463.3(UGT1A1):c.1038G>A (p.Ala346=)
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 | - | 549 |
UGT1A1 | - | - |
GRCh38 GRCh37 |
1 | 353 | |
UGT1A10 | - | - |
GRCh38 GRCh37 |
- | 556 | |
UGT1A3 | - | - |
GRCh38 GRCh37 |
- | 376 | |
UGT1A4 | - | - |
GRCh38 GRCh37 |
- | 401 | |
UGT1A5 | - | - |
GRCh38 GRCh37 |
- | 419 | |
UGT1A6 | - | - |
GRCh38 GRCh37 |
- | 459 | |
UGT1A7 | - | - |
GRCh38 GRCh37 |
- | 510 | |
UGT1A8 | - | - |
GRCh38 GRCh37 |
- | 579 | |
UGT1A9 | - | - |
GRCh38 GRCh37 |
- | 538 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
UGT1A1-related disorder
|
Likely benign (1) |
|
May 19, 2021 | RCV004539198.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 23, 2024