ClinVar

NM_000203.5(IDUA):c.399G>C (p.Met133Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.3

Genomic location:

• Chr4: 1000895 (on Assembly GRCh38)
• Chr4: 994683 (on Assembly GRCh37)

Preferred name:

NM_000203.5(IDUA):c.399G>C (p.Met133Ile)

HGVS:

• NC_000004.12:g.1000895G>C
• NG_008103.1:g.18899G>C
• NM_000203.5:c.399G>CMANE SELECT
• NM_001363576.1:c.3G>C
• NP_000194.2:p.Met133Ile
• NP_001350505.1:p.Met1Ile
• LRG_1277t1:c.399G>C
• LRG_1277:g.18899G>C
• LRG_1277p1:p.Met133Ile
• NC_000004.11:g.994683G>C
• NM_000203.3:c.399G>C
• NR_110313.1:n.487G>C

This HGVS expression did not pass validation

Protein change:

M133I

Links:

dbSNP: rs558683362

NCBI 1000 Genomes Browser:

rs558683362

Molecular consequence:

• NM_001363576.1:c.3G>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_000203.5:c.399G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363576.1:c.3G>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_110313.1:n.487G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]