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Variant (rsID / SNP)

rs5030685

PCDH8

rs5030685 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCDH8. Location: chromosome 13, position 53,420,344. The table records no clinical significance for this variant.

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Reference-table entries

PCDH8Not classified
Variant type
missense_variant
Chromosome / position
13:53420344
HGVS
NM_002590.4,c.2228T>C,p.Val743Ala
Allele change
Missense_V743A

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.