Variant (rsID / SNP)

rs201747452

rs201747452 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADGRV1. Location: chromosome 5, position 90,087,078. 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: 5:90087078
Cytoband: 5q14.3
HGVS: NM_032119.4(ADGRV1):c.14432C>A (p.Pro4811Gln)
Allele change: Missense_P4811Q

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.