Variant (rsID / SNP)

rs201964784

rs201964784 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGM6. Location: chromosome 20, position 2,398,069. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TGM6Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 20:2398069
Cytoband: 20p13
HGVS: NM_198994.3(TGM6):c.1528G>C (p.Asp510His)
Allele change: Missense_D510H

Associated conditions / phenotypes

Spinocerebellar ataxia type 35

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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