Variant (rsID / SNP)

rs784634

rs784634 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HPCAL4. Location: chromosome 1, position 40,149,642. The table records no clinical significance for this variant.

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Reference-table entries

HPCAL4Not classified

Variant type: synonymous_variant
Chromosome / position: 1:40149642
HGVS: NM_001282396.2,c.345C>A,p.Arg115Arg
Allele change: Synonymous_R115R

Associated conditions / phenotypes

Ceroid Lipofuscinosis, Neuronal, 1|Cone-Rod Dystrophy 2|Retinitis Pigmentosa

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.