Variant (rsID / SNP)

rs33955793

rs33955793 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSEN2. Location: chromosome 3, position 12,544,829. 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: 3:12544829
Cytoband: 3p25.2
HGVS: NM_025265.4(TSEN2):c.377G>A (p.Arg126His)
Allele change: Missense_R126H

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.