Variant (rsID / SNP)

rs446227

rs446227 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RP1. Location: chromosome 8, position 55,541,450. Clinical significance in the table: Benign.

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Reference-table entries

RP1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 8:55541450
Cytoband: 8q12.1
HGVS: NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr)
Allele change: Missense_A1670T

Associated conditions / phenotypes

Retinitis pigmentosa|Autosomal recessive retinitis pigmentosa|Retinitis pigmentosa 1

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.