Variant (rsID / SNP)

rs2305816

rs2305816 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SVOPL. Location: chromosome 7, position 138,312,122. The table records no clinical significance for this variant.

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Reference-table entries

SVOPLNot classified

Variant type: missense_variant
Chromosome / position: 7:138312122
HGVS: NM_001139456.2,c.1154T>G,p.Phe385Cys
Allele change: Missense_F294C

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.