Variant (rsID / SNP)

rs147062294

rs147062294 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADGRV1. Location: chromosome 5, position 89,948,228. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ADGRV1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:89948228
Cytoband: 5q14.3
HGVS: NM_032119.4(ADGRV1):c.3482C>G (p.Ser1161Cys)
Allele change: Missense_S1161C

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.