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Variant (rsID / SNP)

rs121909762

ADGRV1

rs121909762 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADGRV1. Location: chromosome 5, position 89,986,808. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ADGRV1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
5:89986808
Cytoband
5q14.3
HGVS
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter)
Allele change
Nonsense_Q2301X

Associated conditions / phenotypes

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

Public references

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