Variant (rsID / SNP)

rs141003293

rs141003293 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSEN34. Location: chromosome 19, position 54,694,316. Clinical significance in the table: Likely benign.

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Reference-table entries

TSEN34Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:54694316
Cytoband: 19q13.42
HGVS: NM_024075.5(TSEN34):c.-5+15G>A
Allele change: Silent

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.