Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs121918302

RIMS1

rs121918302 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RIMS1. Location: chromosome 6, position 72,960,710. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

RIMS1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:72960710
Cytoband
6q13
HGVS
NM_014989.7(RIMS1):c.2459G>A (p.Arg820His)
Allele change
Missense_R820H

Associated conditions / phenotypes

Cone-rod dystrophy 7|Retinal dystrophy

Public references

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