Variant (rsID / SNP)

rs202137622

rs202137622 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RD3. Location: chromosome 1, position 211,665,392. Clinical significance in the table: Likely benign.

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Reference-table entries

RD3Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:211665392
Cytoband: 1q32.3
HGVS: NM_001164688.2(RD3):c.-294A>C
Allele change: Silent

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.