Variant (rsID / SNP)

rs41265501

rs41265501 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RIMS1. Location: chromosome 6, position 72,984,123. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

RIMS1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:72984123
Cytoband: 6q13
HGVS: NM_014989.7(RIMS1):c.3470C>T (p.Pro1157Leu)
Allele change: Missense_P1157L

Associated conditions / phenotypes

Cone-rod dystrophy 7

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.