Variant (rsID / SNP)

rs200197273

rs200197273 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADGRV1. Location: chromosome 5, position 89,923,208. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ADGRV1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:89923208
Cytoband: 5q14.3
HGVS: NM_032119.4(ADGRV1):c.853C>G (p.Arg285Gly)
Allele change: Missense_R285G

Associated conditions / phenotypes

Usher syndrome type 2C

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.