ClinVar

NM_000463.3(UGT1A1):c.1208G>A (p.Arg403His)

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: 233768343 (on Assembly GRCh38)
• Chr2: 234676989 (on Assembly GRCh37)

Preferred name:

NM_000463.3(UGT1A1):c.1208G>A (p.Arg403His)

HGVS:

• NC_000002.12:g.233768343G>A
• NG_002601.2:g.183600G>A
• NG_033238.1:g.13071G>A
• NM_000463.3:c.1208G>AMANE SELECT
• NM_001072.4:c.1205G>AMANE SELECT
• NM_007120.3:c.1211G>AMANE SELECT
• NM_019075.4:c.1199G>AMANE SELECT
• NM_019076.5:c.1199G>AMANE SELECT
• NM_019077.3:c.1199G>AMANE SELECT
• NM_019078.2:c.1211G>AMANE SELECT
• NM_019093.4:c.1211G>AMANE SELECT
• NM_021027.3:c.1199G>AMANE SELECT
• NM_205862.3:c.404G>A
• NP_000454.1:p.Arg403His
• NP_000454.1:p.Arg403His
• NP_001063.2:p.Arg402His
• NP_001063.2:p.Arg402His
• NP_009051.1:p.Arg404His
• NP_009051.1:p.Arg404His
• NP_061948.1:p.Arg400His
• NP_061948.1:p.Arg400His
• NP_061949.3:p.Arg400His
• NP_061949.3:p.Arg400His
• NP_061950.2:p.Arg400His
• NP_061950.2:p.Arg400His
• NP_061951.1:p.Arg404His
• NP_061951.1:p.Arg404His
• NP_061966.1:p.Arg404His
• NP_061966.1:p.Arg404His
• NP_066307.1:p.Arg400His
• NP_066307.1:p.Arg400His
• NP_995584.1:p.Arg135His
• NP_995584.1:p.Arg135His
• LRG_733t1:c.1208G>A
• LRG_733:g.13071G>A
• LRG_733p1:p.Arg403His
• NC_000002.11:g.234676989G>A
• NM_000463.2:c.1208G>A
• NM_001072.3:c.1205G>A
• NM_007120.2:c.1211G>A
• NM_019075.2:c.1199G>A
• NM_019076.4:c.1199G>A
• NM_019077.2:c.1199G>A
• NM_019078.1:c.1211G>A
• NM_019093.2:c.1211G>A
• NM_021027.2:c.1199G>A
• NM_205862.1:c.404G>A

This HGVS expression did not pass validation

Protein change:

R135H

Links:

dbSNP: rs140613392

NCBI 1000 Genomes Browser:

rs140613392

Molecular consequence:

• NM_000463.3:c.1208G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001072.4:c.1205G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_007120.3:c.1211G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_019075.4:c.1199G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_019076.5:c.1199G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_019077.3:c.1199G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_019078.2:c.1211G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_019093.4:c.1211G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_021027.3:c.1199G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_205862.3:c.404G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1