ClinVar Genomic variation as it relates to human health
NM_001072.4(UGT1A6):c.16C>T (p.Arg6Cys)
Germline
Classification
(2)
Uncertain significance
criteria provided, multiple submitters, no conflicts
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 | - | 548 |
UGT1A10 | - | - |
GRCh38 GRCh37 |
- | 554 | |
UGT1A6 | - | - |
GRCh38 GRCh37 |
- | 457 | |
UGT1A7 | - | - |
GRCh38 GRCh37 |
- | 508 | |
UGT1A8 | - | - |
GRCh38 GRCh37 |
- | 577 | |
UGT1A9 | - | - |
GRCh38 GRCh37 |
- | 536 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 7, 2021 | RCV003491832.2 | |
Uncertain significance (1) |
|
Nov 13, 2023 | RCV004364896.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024