Variant (rsID / SNP)

rs78685815

rs78685815 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSEN2. Location: chromosome 3, position 12,531,461. Clinical significance in the table: Benign.

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Reference-table entries

TSEN2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:12531461
Cytoband: 3p25.2
HGVS: NM_025265.4(TSEN2):c.162G>A (p.Ala54=)
Allele change: Synonymous_A54A

Associated conditions / phenotypes

Pontoneocerebellar hypoplasia

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.