Variant (rsID / SNP)

rs11050243

rs11050243 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OVCH1. Location: chromosome 12, position 29,617,550. The table records no clinical significance for this variant.

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Reference-table entries

OVCH1Not classified

Variant type: missense_variant
Chromosome / position: 12:29617550
HGVS: NM_001353179.2,c.2120C>T,p.Ser707Phe
Allele change: Silent

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.