Variant (rsID / SNP)

rs151332020

rs151332020 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSEN54, LLGL2. Location: chromosome 17, position 73,519,845. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TSEN54Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:73519845
Cytoband: 17q25.1
HGVS: NM_207346.3(TSEN54):c.1415G>A (p.Arg472Gln)
Allele change: Missense_R472Q

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.