Annotation Detail
Information
- Associated Genes
- UGT1A UGT1A10 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A9 UGT1A4 UGT1A1 UGT1A3
- Associated Variants
-
UGT1A6 p.Ser374Phe (p.S374F), UGT1A5 p.Ser376Phe (p.S376F), UGT1A9 p.Ser372Phe (p.S372F), UGT1A7 p.Ser372Phe (p.S372F), UGT1A4 p.Ser376Phe (p.S376F), UGT1A8 p.Ser372Phe (p.S372F), UGT1A10 p.Ser372Phe (p.S372F), UGT1A3 p.Ser376Phe (p.S376F), UGT1A1 p.Ser375Phe (p.S375F)
(
ENST00000344644.10,
ENST00000373445.1,
ENST00000373450.5,
ENST00000373426.4,
ENST00000305139.11,
ENST00000373424.5,
ENST00000406651.1,
ENST00000373414.4,
ENST00000354728.5,
ENST00000373409.8,
ENST00000305208.10,
ENST00000360418.4,
ENST00000482026.6 )
UGT1A6 p.Ser374Phe (p.S374F), UGT1A5 p.Ser376Phe (p.S376F), UGT1A9 p.Ser372Phe (p.S372F), UGT1A7 p.Ser372Phe (p.S372F), UGT1A4 p.Ser376Phe (p.S376F), UGT1A8 p.Ser372Phe (p.S372F), UGT1A10 p.Ser372Phe (p.S372F), UGT1A3 p.Ser376Phe (p.S376F), UGT1A1 p.Ser375Phe (p.S375F) ( ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000373426.4, ENST00000305139.11, ENST00000373424.5, ENST00000406651.1, ENST00000373414.4, ENST00000354728.5, ENST00000373409.8, ENST00000305208.10, ENST00000360418.4, ENST00000482026.6 ) - Associated Disease
- Crigler-Najjar syndrome type 1
- Source Database
- ClinVar
- Description
- NM_000463.3(UGT1A1):c.1124C>T (p.Ser375Phe) AND Crigler-Najjar syndrome type 1
- ClinVar Allele ID
- 27306
- ClinVar RefSeq Alternation Syntax
- NM_000463.3:c.1124C>T
- ClinVar RefSeq Alternation Syntax
- NM_205862.3:c.320C>T
- ClinVar RefSeq Alternation Syntax
- NM_019093.4:c.1127C>T
- ClinVar RefSeq Alternation Syntax
- NM_019078.2:c.1127C>T
- ClinVar RefSeq Alternation Syntax
- NM_019076.5:c.1115C>T
- ClinVar RefSeq Alternation Syntax
- NM_007120.3:c.1127C>T
- ClinVar RefSeq Alternation Syntax
- NM_019075.4:c.1115C>T
- ClinVar RefSeq Alternation Syntax
- NM_019077.3:c.1115C>T
- ClinVar RefSeq Alternation Syntax
- NM_021027.3:c.1115C>T
- ClinVar RefSeq Alternation Syntax
- NM_001072.4:c.1121C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1994-02-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013054
- ClinVar Disease
- Crigler-Najjar syndrome type 1
- Observed Origin Sample
- germline
- Pubmed
- 7906695
- Pubmed
- 1634050
- Pubmed
- 1692835
Drugs