Variant (rsID / SNP)

rs62088470

rs62088470 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSEN54, LLGL2. Location: chromosome 17, position 73,520,359. Clinical significance in the table: Benign.

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Reference-table entries

TSEN54Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:73520359
Cytoband: 17q25.1
HGVS: NM_207346.3(TSEN54):c.1447C>G (p.Pro483Ala)
Allele change: Missense_P483A

Associated conditions / phenotypes

Pontoneocerebellar hypoplasia|Pontocerebellar hypoplasia type 2A|Pontocerebellar hypoplasia type 5|Pontocerebellar hypoplasia type 4

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.