ClinVar

NM_000202.8(IDS):c.418+34G>T

Gene:

IDS:iduronate 2-sulfatase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 149503278 (on Assembly GRCh38)
• ChrX: 148584808 (on Assembly GRCh37)

Preferred name:

NM_000202.8(IDS):c.418+34G>T

HGVS:

• NC_000023.11:g.149503278C>A
• NG_011900.3:g.7057G>T
• NM_000202.8:c.418+34G>TMANE SELECT
• NM_001166550.4:c.148+34G>T
• NM_006123.5:c.418+34G>T
• NC_000023.10:g.148584808C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1463289439

NCBI 1000 Genomes Browser:

rs1463289439

Molecular consequence:

• NM_000202.8:c.418+34G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001166550.4:c.148+34G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_006123.5:c.418+34G>T - intron variant - [Sequence Ontology: SO:0001627]