Variant (rsID / SNP)

rs8064529

rs8064529 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSEN54, LLGL2. Location: chromosome 17, position 73,519,413. Clinical significance in the table: Benign.

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Reference-table entries

TSEN54Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:73519413
Cytoband: 17q25.1
HGVS: NM_207346.3(TSEN54):c.1310C>T (p.Ala437Val)
Allele change: Missense_A437V

Associated conditions / phenotypes

Pontoneocerebellar hypoplasia|Pontocerebellar hypoplasia type 4|Pontocerebellar hypoplasia type 2A|Pontocerebellar hypoplasia type 5

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.