ClinVar

NM_000202.8(IDS):c.1403G>A (p.Arg468Gln)

Gene:

IDS:iduronate 2-sulfatase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 149482996 (on Assembly GRCh38)
• ChrX: 148564527 (on Assembly GRCh37)

Preferred name:

NM_000202.8(IDS):c.1403G>A (p.Arg468Gln)

HGVS:

• NC_000023.11:g.149482996C>T
• NG_011900.3:g.27339G>A
• NM_000202.8:c.1403G>AMANE SELECT
• NM_001166550.4:c.1133G>A
• NP_000193.1:p.Arg468Gln
• NP_000193.1:p.Arg468Gln
• NP_001160022.1:p.Arg378Gln
• NC_000023.10:g.148564527C>T
• NM_000202.5:c.1403G>A
• NM_000202.6:c.1403G>A
• NM_000202.7:c.1403G>A
• P22304:p.Arg468Gln

This HGVS expression did not pass validation

Protein change:

R378Q; ARG468GLN

Links:

UniProtKB: P22304#VAR_007377; OMIM: 300823.0013; dbSNP: rs113993946

NCBI 1000 Genomes Browser:

rs113993946

Molecular consequence:

• NM_000202.8:c.1403G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001166550.4:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]