ClinVar

NM_015046.7(SETX):c.*7C>T

Gene:

SETX:senataxin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.13

Genomic location:

• Chr9: 132264232 (on Assembly GRCh38)
• Chr9: 135139619 (on Assembly GRCh37)

Preferred name:

NM_015046.7(SETX):c.*7C>T

HGVS:

• NC_000009.12:g.132264232G>A
• NG_007946.1:g.95754C>T
• NM_001351527.2:c.*7C>T
• NM_001351528.2:c.*7C>T
• NM_015046.7:c.*7C>TMANE SELECT
• LRG_268t1:c.*7C>T
• LRG_268:g.95754C>T
• NC_000009.11:g.135139619G>A
• NM_015046.5:c.*7C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs754956426

NCBI 1000 Genomes Browser:

rs754956426

Molecular consequence:

• NM_001351527.2:c.*7C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001351528.2:c.*7C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_015046.7:c.*7C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]