Variant (rsID / SNP)

rs142211875

rs142211875 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSEN2. Location: chromosome 3, position 12,544,841. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TSEN2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:12544841
Cytoband: 3p25.2
HGVS: NM_025265.4(TSEN2):c.389A>C (p.Lys130Thr)
Allele change: Missense_K130T

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.