Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs142244640

RLBP1

rs142244640 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RLBP1. Location: chromosome 15, position 89,755,113. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

RLBP1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:89755113
Cytoband
15q26.1
HGVS
NM_000326.5(RLBP1):c.545T>G (p.Phe182Cys)
Allele change
Missense_F182C

Associated conditions / phenotypes

Retinitis pigmentosa|Newfoundland cone-rod dystrophy|Pigmentary retinal dystrophy

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.