ClinVar

NM_000203.5(IDUA):c.1504C>T (p.Arg502Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.3

Genomic location:

• Chr4: 1003137 (on Assembly GRCh38)
• Chr4: 996925 (on Assembly GRCh37)

Preferred name:

NM_000203.5(IDUA):c.1504C>T (p.Arg502Trp)

HGVS:

• NC_000004.12:g.1003137C>T
• NG_008103.1:g.21141C>T
• NG_101700.1:g.26C>T
• NM_000203.5:c.1504C>TMANE SELECT
• NM_001363576.1:c.1108C>T
• NP_000194.2:p.Arg502Trp
• NP_001350505.1:p.Arg370Trp
• LRG_1277t1:c.1504C>T
• LRG_1277:g.21141C>T
• LRG_1277p1:p.Arg502Trp
• NC_000004.11:g.996925C>T
• NR_110313.1:n.1592C>T

This HGVS expression did not pass validation

Protein change:

R370W

Molecular consequence:

• NM_000203.5:c.1504C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363576.1:c.1108C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_110313.1:n.1592C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]