ClinVar

NM_000202.8(IDS):c.641C>T (p.Thr214Met)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 149498174 (on Assembly GRCh38)
• ChrX: 148579705 (on Assembly GRCh37)

Preferred name:

NM_000202.8(IDS):c.641C>T (p.Thr214Met)

HGVS:

• NC_000023.11:g.149498174G>A
• NG_011900.3:g.12161C>T
• NG_042264.1:g.11529G>A
• NM_000202.8:c.641C>TMANE SELECT
• NM_001166550.4:c.371C>T
• NM_006123.5:c.641C>T
• NP_000193.1:p.Thr214Met
• NP_000193.1:p.Thr214Met
• NP_001160022.1:p.Thr124Met
• NP_006114.1:p.Thr214Met
• NC_000023.10:g.148579705G>A
• NM_000202.4:c.641C>T
• NM_000202.5:c.641C>T
• NM_000202.6:c.641C>T
• NM_000202.7:c.641C>T
• NR_104128.2:n.810C>T

This HGVS expression did not pass validation

Protein change:

T124M

Links:

dbSNP: rs61736892

NCBI 1000 Genomes Browser:

rs61736892

Molecular consequence:

• NM_000202.8:c.641C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001166550.4:c.371C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006123.5:c.641C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_104128.2:n.810C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1