Variant (rsID / SNP)

rs200996822

rs200996822 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RP1L1. Location: chromosome 8, position 10,480,500. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RP1L1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 8:10480500
Cytoband: 8p23.1
HGVS: NM_178857.6(RP1L1):c.212G>A (p.Arg71His)
Allele change: Missense_R71H

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.