Variant (rsID / SNP)

rs148097083

rs148097083 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADGRV1. Location: chromosome 5, position 89,943,581. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ADGRV1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 5:89943581
Cytoband: 5q14.3
HGVS: NM_032119.4(ADGRV1):c.3289G>A (p.Gly1097Ser)
Allele change: Missense_G1097S

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.