Variant (rsID / SNP)

rs2472647

rs2472647 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCDHGA1. Location: chromosome 5, position 140,710,705. The table records no clinical significance for this variant.

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Reference-table entries

PCDHGA1Not classified

Variant type: missense_variant
Chromosome / position: 5:140710705
HGVS: NM_018912.3,c.454G>A,p.Val152Ile
Allele change: Missense_V152I

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.