ClinVar

NM_015046.7(SETX):c.3905G>T (p.Arg1302Leu)

Gene:

SETX:senataxin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.13

Genomic location:

• Chr9: 132327693 (on Assembly GRCh38)
• Chr9: 135203080 (on Assembly GRCh37)

Preferred name:

NM_015046.7(SETX):c.3905G>T (p.Arg1302Leu)

HGVS:

• NC_000009.12:g.132327693C>A
• NG_007946.1:g.32293G>T
• NM_001351527.2:c.3905G>T
• NM_001351528.2:c.3905G>T
• NM_015046.7:c.3905G>TMANE SELECT
• NP_001338456.1:p.Arg1302Leu
• NP_001338457.1:p.Arg1302Leu
• NP_055861.3:p.Arg1302Leu
• NP_055861.3:p.Arg1302Leu
• LRG_268t1:c.3905G>T
• LRG_268:g.32293G>T
• LRG_268p1:p.Arg1302Leu
• NC_000009.11:g.135203080C>A
• NM_015046.5:c.3905G>T

This HGVS expression did not pass validation

Protein change:

R1302L

Molecular consequence:

• NM_001351527.2:c.3905G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351528.2:c.3905G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_015046.7:c.3905G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1