Variant (rsID / SNP)

rs182698253

rs182698253 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADGRV1. Location: chromosome 5, position 90,079,091. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ADGRV1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:90079091
Cytoband: 5q14.3
HGVS: NM_032119.4(ADGRV1):c.13382A>G (p.His4461Arg)
Allele change: Missense_H4461R

Associated conditions / phenotypes

Febrile seizures, familial, 4|Usher syndrome type 2C|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.