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NM_007375.3(TARDBP):c.881G>C (p.Gly294Ala) AND Amyotrophic lateral sclerosis type 10

Significance: Pathogenic
ClinVar: RCV000005541

Variant: NM_007375.3(TARDBP):c.881G>C (p.Gly294Ala)

Type: Variant
Allele: NM_007375.3(TARDBP):c.881G>C (p.Gly294Ala) 20269
Gene:
Type: single nucleotide variant
Location: Chr1: 11082347 - assembly GRCh37
Chr1: 11022290 - assembly GRCh38
References: dbSNP: 80356721
OMIM: 605078.0003
UniProtKB: Q13148#VAR_045660

Condition

Disease: Amyotrophic lateral sclerosis type 10

Citations

    In an Australian man who developed limb-onset ALS (612069) at age 65 with a disease duration of 5 years and no atypical features, Sreedharan et al. (2008) identified a G-to-C transversion at nucleotide 881 in exon 6 of the TARDBP gene, resulting in a glycine-to-alanine substitution at codon 294 (G294A).
PMID:18309045
    Luquin et al. (2009) identified the G294A mutation in postmortem brain tissue from a patient with sporadic ALS. No clinical information was given.
PMID:19695877