Variant (rsID / SNP)

rs111033517

rs111033517 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADGRV1. Location: chromosome 5, position 90,002,132. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ADGRV1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 5:90002132
Cytoband: 5q14.3
HGVS: NM_032119.4(ADGRV1):c.8651T>C (p.Val2884Ala)
Allele change: Missense_V2884A

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.