Variant (rsID / SNP)

rs76216585

rs76216585 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POC1B. Location: chromosome 12, position 89,885,848. Clinical significance in the table: Pathogenic.

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Reference-table entries

POC1BPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:89885848
Cytoband: 12q21.33
HGVS: NM_172240.3(POC1B):c.317G>C (p.Arg106Pro)
Allele change: Missense_R64Q

Associated conditions / phenotypes

Cone-rod dystrophy 20

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.