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Variant (rsID / SNP)

rs146117200

TSEN2

rs146117200 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSEN2. Location: chromosome 3, position 12,545,012. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TSEN2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:12545012
Cytoband
3p25.2
HGVS
NM_025265.4(TSEN2):c.560G>C (p.Arg187Pro)
Allele change
Missense_R187P

Associated conditions / phenotypes

Pontoneocerebellar hypoplasia

Public references

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