ClinVar

NM_000202.8(IDS):c.958G>A (p.Asp320Asn)

Genes:

LOC106050102:IDS recombination region [Gene]
IDS:iduronate 2-sulfatase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 149490362 (on Assembly GRCh38)
• ChrX: 148571893 (on Assembly GRCh37)

Preferred name:

NM_000202.8(IDS):c.958G>A (p.Asp320Asn)

HGVS:

• NC_000023.11:g.149490362C>T
• NG_011900.3:g.19973G>A
• NG_042264.1:g.3717C>T
• NM_000202.8:c.958G>AMANE SELECT
• NM_001166550.4:c.688G>A
• NM_006123.5:c.958G>A
• NP_000193.1:p.Asp320Asn
• NP_001160022.1:p.Asp230Asn
• NP_006114.1:p.Asp320Asn
• NC_000023.10:g.148571893C>T
• NM_000202.5:c.958G>A
• NR_104128.2:n.1257G>A

This HGVS expression did not pass validation

Protein change:

D230N

Links:

dbSNP: rs2089379111

NCBI 1000 Genomes Browser:

rs2089379111

Molecular consequence:

• NM_000202.8:c.958G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001166550.4:c.688G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_006123.5:c.958G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_104128.2:n.1257G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]