Variant (rsID / SNP)

rs144662042

rs144662042 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSEN54, LLGL2. Location: chromosome 17, position 73,520,380. 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: 17:73520380
Cytoband: 17q25.1
HGVS: NM_207346.3(TSEN54):c.1468C>T (p.Arg490Trp)
Allele change: Missense_R490W

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.