ClinVar

NM_001253875.2(UXS1):c.602G>A (p.Arg201His)

Gene:

UXS1:UDP-glucuronate decarboxylase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q12.2

Genomic location:

• Chr2: 106125655 (on Assembly GRCh38)
• Chr2: 106742111 (on Assembly GRCh37)

Preferred name:

NM_001253875.2(UXS1):c.602G>A (p.Arg201His)

HGVS:

• NC_000002.12:g.106125655C>T
• NM_001253875.2:c.602G>AMANE SELECT
• NM_001253876.2:c.83G>A
• NM_001377504.1:c.602G>A
• NM_001377505.1:c.587G>A
• NM_001377506.1:c.422G>A
• NM_001377507.1:c.602G>A
• NM_001377508.1:c.587G>A
• NM_001377509.1:c.263G>A
• NM_025076.5:c.587G>A
• NP_001240804.1:p.Arg201His
• NP_001240805.1:p.Arg28His
• NP_001364433.1:p.Arg201His
• NP_001364434.1:p.Arg196His
• NP_001364435.1:p.Arg141His
• NP_001364436.1:p.Arg201His
• NP_001364437.1:p.Arg196His
• NP_001364438.1:p.Arg88His
• NP_079352.2:p.Arg196His
• NC_000002.11:g.106742111C>T
• NM_025076.3:c.587G>A
• NR_045607.2:n.598G>A
• NR_165308.1:n.767G>A

This HGVS expression did not pass validation

Protein change:

R141H

Molecular consequence:

• NM_001253875.2:c.602G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001253876.2:c.83G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377504.1:c.602G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377505.1:c.587G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377506.1:c.422G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377507.1:c.602G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377508.1:c.587G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377509.1:c.263G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_025076.5:c.587G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_045607.2:n.598G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_165308.1:n.767G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]