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Variant (rsID / SNP)

rs80356719

TARDBP

rs80356719 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TARDBP. Location: chromosome 1, position 11,082,325. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TARDBPConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:11082325
Cytoband
1p36.22
HGVS
NM_007375.4(TARDBP):c.859G>A (p.Gly287Ser)
Allele change
Missense_G287S

Associated conditions / phenotypes

Amyotrophic lateral sclerosis type 10|Motor neuron disease|TARDBP-related frontotemporal dementia|Amyotrophic lateral sclerosis type 10

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.