Variant (rsID / SNP)

rs77775126

rs77775126 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RP1. Location: chromosome 8, position 55,537,560. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

RP1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:55537560
Cytoband: 8q12.1
HGVS: NM_006269.2(RP1):c.1118C>T (p.Thr373Ile)
Allele change: Missense_T373I

Associated conditions / phenotypes

Retinitis pigmentosa 1|Retinitis pigmentosa

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.