ClinVar

NM_000203.5(IDUA):c.757G>T (p.Gly253Cys)

Gene:

IDUA:alpha-L-iduronidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.3

Genomic location:

• Chr4: 1001846 (on Assembly GRCh38)
• Chr4: 995634 (on Assembly GRCh37)

Preferred name:

NM_000203.5(IDUA):c.757G>T (p.Gly253Cys)

HGVS:

• NC_000004.12:g.1001846G>T
• NG_008103.1:g.19850G>T
• NM_000203.5:c.757G>TMANE SELECT
• NM_001363576.1:c.361G>T
• NP_000194.2:p.Gly253Cys
• NP_001350505.1:p.Gly121Cys
• LRG_1277t1:c.757G>T
• LRG_1277:g.19850G>T
• LRG_1277p1:p.Gly253Cys
• NC_000004.11:g.995634G>T
• NM_000203.3:c.757G>T
• NM_000203.4:c.757G>T
• NR_110313.1:n.845G>T

This HGVS expression did not pass validation

Protein change:

G121C

Links:

dbSNP: rs546933529

NCBI 1000 Genomes Browser:

rs546933529

Molecular consequence:

• NM_000203.5:c.757G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363576.1:c.361G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_110313.1:n.845G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1