ClinVar

NM_000203.5(IDUA):c.234C>T (p.Gly78=)

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: 987884 (on Assembly GRCh38)
• Chr4: 981672 (on Assembly GRCh37)

Preferred name:

NM_000203.5(IDUA):c.234C>T (p.Gly78=)

HGVS:

• NC_000004.12:g.987884C>T
• NG_008103.1:g.5888C>T
• NG_033042.1:g.10553G>A
• NM_000203.5:c.234C>TMANE SELECT
• NM_022042.4:c.*949G>AMANE SELECT
• NM_134425.4:c.576+3244G>A
• NM_213613.4:c.*949G>A
• NP_000194.2:p.Gly78=
• LRG_1277t1:c.234C>T
• LRG_1277:g.5888C>T
• LRG_1277p1:p.Gly78=
• NC_000004.11:g.981672C>T
• NM_000203.3:c.234C>T
• NM_000203.4:c.234C>T
• NR_110313.1:n.322C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs138932617

NCBI 1000 Genomes Browser:

rs138932617

Molecular consequence:

• NM_022042.4:c.*949G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_213613.4:c.*949G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_134425.4:c.576+3244G>A - intron variant - [Sequence Ontology: SO:0001627]
• NR_110313.1:n.322C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000203.5:c.234C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2