ClinVar

NM_000203.5(IDUA):c.159-1G>A

Genes:

IDUA:alpha-L-iduronidase [Gene - OMIM - HGNC]
SLC26A1:solute carrier family 26 member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.3

Genomic location:

• Chr4: 987808 (on Assembly GRCh38)
• Chr4: 981596 (on Assembly GRCh37)

Preferred name:

NM_000203.5(IDUA):c.159-1G>A

HGVS:

• NC_000004.12:g.987808G>A
• NG_008103.1:g.5812G>A
• NG_033042.1:g.10629C>T
• NM_000203.5:c.159-1G>AMANE SELECT
• NM_022042.4:c.*1025C>TMANE SELECT
• NM_134425.4:c.576+3320C>T
• NM_213613.4:c.*1025C>T
• LRG_1277t1:c.159-1G>A
• LRG_1277:g.5812G>A
• NC_000004.11:g.981596G>A
• NM_000203.3:c.159-1G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1553914935

NCBI 1000 Genomes Browser:

rs1553914935

Molecular consequence:

• NM_022042.4:c.*1025C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_213613.4:c.*1025C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_134425.4:c.576+3320C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000203.5:c.159-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]