ClinVar

NM_000202.8(IDS):c.244G>A (p.Ala82Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 149503486 (on Assembly GRCh38)
• ChrX: 148585016 (on Assembly GRCh37)

Preferred name:

NM_000202.8(IDS):c.244G>A (p.Ala82Thr)

HGVS:

• NC_000023.11:g.149503486C>T
• NG_011900.3:g.6849G>A
• NM_000202.8:c.244G>AMANE SELECT
• NM_001166550.4:c.15-41G>A
• NM_006123.5:c.244G>A
• NP_000193.1:p.Ala82Thr
• NP_006114.1:p.Ala82Thr
• NC_000023.10:g.148585016C>T
• NR_104128.2:n.413G>A

This HGVS expression did not pass validation

Protein change:

A82T

Molecular consequence:

• NM_001166550.4:c.15-41G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000202.8:c.244G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_006123.5:c.244G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_104128.2:n.413G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]