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NM_007375.3(TARDBP):c.881G>T (p.Gly294Val) AND Amyotrophic lateral sclerosis type 10

Significance: Pathogenic
ClinVar: RCV000020673

Variant: NM_007375.3(TARDBP):c.881G>T (p.Gly294Val)

Type: Variant
Allele: NM_007375.3(TARDBP):c.881G>T (p.Gly294Val) 34336
Gene:
Type: single nucleotide variant
Location: Chr1: 11082347 - assembly GRCh37
Chr1: 11022290 - assembly GRCh38
References: dbSNP: 80356721
UniProtKB: Q13148#VAR_058612

Condition

Disease: Amyotrophic lateral sclerosis type 10