Variant (rsID / SNP)

rs848209

rs848209 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPEN. Location: chromosome 1, position 16,256,007. The table records no clinical significance for this variant.

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Reference-table entries

SPENNot classified

Variant type: missense_variant
Chromosome / position: 1:16256007
HGVS: NM_015001.3,c.3272T>C,p.Leu1091Pro
Allele change: Missense_L1091P

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.