ClinVar

NM_015046.7(SETX):c.4204A>T (p.Thr1402Ser)

Gene:

SETX:senataxin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.13

Genomic location:

• Chr9: 132327394 (on Assembly GRCh38)
• Chr9: 135202781 (on Assembly GRCh37)

Preferred name:

NM_015046.7(SETX):c.4204A>T (p.Thr1402Ser)

HGVS:

• NC_000009.12:g.132327394T>A
• NG_007946.1:g.32592A>T
• NM_001351527.2:c.4204A>T
• NM_001351528.2:c.4204A>T
• NM_015046.7:c.4204A>TMANE SELECT
• NP_001338456.1:p.Thr1402Ser
• NP_001338457.1:p.Thr1402Ser
• NP_055861.3:p.Thr1402Ser
• LRG_268t1:c.4204A>T
• LRG_268:g.32592A>T
• NC_000009.11:g.135202781T>A
• NM_015046.5:c.4204A>T

This HGVS expression did not pass validation

Protein change:

T1402S

Links:

dbSNP: rs150421712

NCBI 1000 Genomes Browser:

rs150421712

Molecular consequence:

• NM_001351527.2:c.4204A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351528.2:c.4204A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_015046.7:c.4204A>T - missense variant - [Sequence Ontology: SO:0001583]