ClinVar

NM_000463.3(UGT1A1):c.1567C>T (p.Arg523Ter)

Genes:

• UGT1A:UDP glucuronosyltransferase family 1 member A complex locus [Gene - HGNC]
• UGT1A10:UDP glucuronosyltransferase family 1 member A10 [Gene - OMIM - HGNC]
• UGT1A1:UDP glucuronosyltransferase family 1 member A1 [Gene - OMIM - HGNC]
• UGT1A3:UDP glucuronosyltransferase family 1 member A3 [Gene - OMIM - HGNC]
• UGT1A4:UDP glucuronosyltransferase family 1 member A4 [Gene - OMIM - HGNC]
• UGT1A5:UDP glucuronosyltransferase family 1 member A5 [Gene - OMIM - HGNC]
• UGT1A6:UDP glucuronosyltransferase family 1 member A6 [Gene - OMIM - HGNC]
• UGT1A7:UDP glucuronosyltransferase family 1 member A7 [Gene - OMIM - HGNC]
• UGT1A8:UDP glucuronosyltransferase family 1 member A8 [Gene - OMIM - HGNC]
• UGT1A9:UDP glucuronosyltransferase family 1 member A9 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.1

Genomic location:

• Chr2: 233772524 (on Assembly GRCh38)
• Chr2: 234681170 (on Assembly GRCh37)

Preferred name:

NM_000463.3(UGT1A1):c.1567C>T (p.Arg523Ter)

HGVS:

• NC_000002.12:g.233772524C>T
• NG_002601.2:g.187781C>T
• NG_033238.1:g.17252C>T
• NG_051337.1:g.1863C>T
• NM_000463.3:c.1567C>TMANE SELECT
• NM_001072.4:c.1564C>TMANE SELECT
• NM_007120.3:c.1570C>TMANE SELECT
• NM_019075.4:c.1558C>TMANE SELECT
• NM_019076.5:c.1558C>TMANE SELECT
• NM_019077.3:c.1558C>TMANE SELECT
• NM_019078.2:c.1570C>TMANE SELECT
• NM_019093.4:c.1570C>TMANE SELECT
• NM_021027.3:c.1558C>TMANE SELECT
• NM_205862.3:c.763C>T
• NP_000454.1:p.Arg523Ter
• NP_000454.1:p.Arg523Ter
• NP_001063.2:p.Arg522Ter
• NP_001063.2:p.Arg522Ter
• NP_009051.1:p.Arg524Ter
• NP_009051.1:p.Arg524Ter
• NP_061948.1:p.Arg520Ter
• NP_061948.1:p.Arg520Ter
• NP_061949.3:p.Arg520Ter
• NP_061949.3:p.Arg520Ter
• NP_061950.2:p.Arg520Ter
• NP_061950.2:p.Arg520Ter
• NP_061951.1:p.Arg524Ter
• NP_061951.1:p.Arg524Ter
• NP_061966.1:p.Arg524Ter
• NP_061966.1:p.Arg524Ter
• NP_066307.1:p.Arg520Ter
• NP_066307.1:p.Arg520Ter
• NP_995584.1:p.Arg255Ter
• NP_995584.1:p.Arg255Ter
• LRG_733t1:c.1567C>T
• LRG_733:g.17252C>T
• LRG_733p1:p.Arg523Ter
• NC_000002.11:g.234681170C>T
• NM_000463.2:c.1567C>T
• NM_001072.3:c.1564C>T
• NM_007120.2:c.1570C>T
• NM_019075.2:c.1558C>T
• NM_019076.4:c.1558C>T
• NM_019077.2:c.1558C>T
• NM_019078.1:c.1570C>T
• NM_019093.2:c.1570C>T
• NM_021027.2:c.1558C>T
• NM_205862.1:c.763C>T

This HGVS expression did not pass validation

Protein change:

R255*

Links:

dbSNP: rs770564267

NCBI 1000 Genomes Browser:

rs770564267

Molecular consequence:

• NM_000463.3:c.1567C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001072.4:c.1564C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_007120.3:c.1570C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_019075.4:c.1558C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_019076.5:c.1558C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_019077.3:c.1558C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_019078.2:c.1570C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_019093.4:c.1570C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_021027.3:c.1558C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_205862.3:c.763C>T - nonsense - [Sequence Ontology: SO:0001587]