ClinVar

NM_000463.3(UGT1A1):c.577G>A (p.Val193Met)

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: 233760864 (on Assembly GRCh38)
• Chr2: 234669510 (on Assembly GRCh37)

Preferred name:

NM_000463.3(UGT1A1):c.577G>A (p.Val193Met)

HGVS:

• NC_000002.12:g.233760864G>A
• NG_002601.2:g.176121G>A
• NG_033238.1:g.5592G>A
• NM_000463.3:c.577G>AMANE SELECT
• NM_001072.4:c.862-6170G>AMANE SELECT
• NM_007120.3:c.868-6170G>AMANE SELECT
• NM_019075.4:c.856-6170G>AMANE SELECT
• NM_019076.5:c.856-6170G>AMANE SELECT
• NM_019077.3:c.856-6170G>AMANE SELECT
• NM_019078.2:c.868-6170G>AMANE SELECT
• NM_019093.4:c.868-6170G>AMANE SELECT
• NM_021027.3:c.856-6170G>AMANE SELECT
• NM_205862.3:c.61-6170G>A
• NP_000454.1:p.Val193Met
• NP_000454.1:p.Val193Met
• LRG_733t1:c.577G>A
• LRG_733:g.5592G>A
• LRG_733p1:p.Val193Met
• NC_000002.11:g.234669510G>A
• NM_000463.2:c.577G>A

This HGVS expression did not pass validation

Protein change:

V193M

Links:

dbSNP: rs375974892

NCBI 1000 Genomes Browser:

rs375974892

Molecular consequence:

• NM_001072.4:c.862-6170G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_007120.3:c.868-6170G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_019075.4:c.856-6170G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_019076.5:c.856-6170G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_019077.3:c.856-6170G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_019078.2:c.868-6170G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_019093.4:c.868-6170G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_021027.3:c.856-6170G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_205862.3:c.61-6170G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000463.3:c.577G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2