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Variant (rsID / SNP)

rs113981920

TSEN2

rs113981920 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSEN2. Location: chromosome 3, position 12,573,152. 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
3:12573152
Cytoband
3p25.2
HGVS
NM_025265.4(TSEN2):c.1332A>G (p.Lys444=)
Allele change
Synonymous_K418K

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.