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Variant (rsID / SNP)

rs113994149

TSEN2

rs113994149 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSEN2. Location: chromosome 3, position 12,558,126. 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
3:12558126
Cytoband
3p25.2
HGVS
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys)
Allele change
Missense_Y283C

Associated conditions / phenotypes

Pontocerebellar hypoplasia type 2B|Pontoneocerebellar hypoplasia

Public references

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