ClinVar

NM_000203.5(IDUA):c.813C>T (p.Ser271=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.3

Genomic location:

• Chr4: 1002002 (on Assembly GRCh38)
• Chr4: 995790 (on Assembly GRCh37)

Preferred name:

NM_000203.5(IDUA):c.813C>T (p.Ser271=)

HGVS:

• NC_000004.12:g.1002002C>T
• NG_008103.1:g.20006C>T
• NM_000203.5:c.813C>TMANE SELECT
• NM_001363576.1:c.417C>T
• NP_000194.2:p.Ser271=
• NP_001350505.1:p.Ser139=
• LRG_1277t1:c.813C>T
• LRG_1277:g.20006C>T
• LRG_1277p1:p.Ser271=
• NC_000004.11:g.995790C>T
• NR_110313.1:n.901C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs569215528

NCBI 1000 Genomes Browser:

rs569215528

Molecular consequence:

• NR_110313.1:n.901C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000203.5:c.813C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001363576.1:c.417C>T - synonymous variant - [Sequence Ontology: SO:0001819]