Variant (rsID / SNP)

rs374805348

rs374805348 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDE6C. Location: chromosome 10, position 95,385,411. Clinical significance in the table: Pathogenic.

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Reference-table entries

PDE6CPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:95385411
Cytoband: 10q23.33
HGVS: NM_006204.4(PDE6C):c.939+5G>A
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.