ClinVar

NM_000202.8(IDS):c.253G>A (p.Ala85Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 149503477 (on Assembly GRCh38)
• ChrX: 148585007 (on Assembly GRCh37)

Preferred name:

NM_000202.8(IDS):c.253G>A (p.Ala85Thr)

HGVS:

• NC_000023.11:g.149503477C>T
• NG_011900.3:g.6858G>A
• NM_000202.8:c.253G>AMANE SELECT
• NM_001166550.4:c.15-32G>A
• NM_006123.5:c.253G>A
• NP_000193.1:p.Ala85Thr
• NP_000193.1:p.Ala85Thr
• NP_006114.1:p.Ala85Thr
• NC_000023.10:g.148585007C>T
• NM_000202.5:c.253G>A
• NM_000202.6:c.253G>A
• NM_000202.7:c.253G>A
• NR_104128.2:n.422G>A
• P22304:p.Ala85Thr

This HGVS expression did not pass validation

Protein change:

A85T

Links:

UniProtKB: P22304#VAR_007319; dbSNP: rs113993949

NCBI 1000 Genomes Browser:

rs113993949

Molecular consequence:

• NM_001166550.4:c.15-32G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000202.8:c.253G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_006123.5:c.253G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_104128.2:n.422G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Functional consequence:

variation affecting protein [Variation Ontology: 0002]

Observations:

1