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Variant (rsID / SNP)

rs138719855

TSEN54

rs138719855 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSEN54. Location: chromosome 17, position 73,517,777. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TSEN54Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
17:73517777
Cytoband
17q25.1
HGVS
NM_207346.3(TSEN54):c.624-9G>A
Allele change
Silent

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.