ClinVar

NM_000203.5(IDUA):c.1650+13C>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.3

Genomic location:

• Chr4: 1003483 (on Assembly GRCh38)
• Chr4: 997271 (on Assembly GRCh37)

Preferred name:

NM_000203.5(IDUA):c.1650+13C>A

HGVS:

• NC_000004.12:g.1003483C>A
• NG_008103.1:g.21487C>A
• NG_101700.1:g.372C>A
• NM_000203.5:c.1650+13C>AMANE SELECT
• NM_001363576.1:c.1254+13C>A
• LRG_1277t1:c.1650+13C>A
• LRG_1277:g.21487C>A
• NC_000004.11:g.997271C>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_000203.5:c.1650+13C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001363576.1:c.1254+13C>A - intron variant - [Sequence Ontology: SO:0001627]