Variant (rsID / SNP)

rs34452707

rs34452707 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TDP1. Location: chromosome 14, position 90,450,886. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TDP1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 14:90450886
Cytoband: 14q32.11
HGVS: NM_018319.4(TDP1):c.911G>A (p.Arg304Gln)
Allele change: Missense_R304Q

Associated conditions / phenotypes

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1

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.