Variant (rsID / SNP)

rs34049451

rs34049451 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RD3. Location: chromosome 1, position 211,654,619. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RD3Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:211654619
Cytoband: 1q32.3
HGVS: NM_001164688.2(RD3):c.139C>T (p.Arg47Cys)
Allele change: Missense_R47C

Associated conditions / phenotypes

Leber congenital amaurosis 12

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.