Variant (rsID / SNP)

rs17740066

rs17740066 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STXBP5L. Location: chromosome 3, position 121,100,283. The table records no clinical significance for this variant.

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Reference-table entries

STXBP5LNot classified

Variant type: missense_variant
Chromosome / position: 3:121100283
HGVS: NM_001348343.2,c.2563G>A,p.Val855Ile
Allele change: Missense_V855I

Associated conditions / phenotypes

Missense_V831I

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.