Variant (rsID / SNP)

rs200540627

rs200540627 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSEN54. Location: chromosome 17, position 73,518,219. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TSEN54Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:73518219
Cytoband: 17q25.1
HGVS: NM_207346.3(TSEN54):c.1057C>T (p.Arg353Trp)
Allele change: Missense_R353W

Associated conditions / phenotypes

Pontocerebellar hypoplasia type 5

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.