Variant (rsID / SNP)

rs373780305

rs373780305 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADGRV1. Location: chromosome 5, position 89,938,703. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ADGRV1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:89938703
Cytoband: 5q14.3
HGVS: NM_032119.4(ADGRV1):c.2398C>T (p.Arg800Ter)
Allele change: Nonsense_R800X

Associated conditions / phenotypes

Rare genetic deafness|Usher syndrome type 2C|Febrile seizures, familial, 4

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.