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Variant (rsID / SNP)

rs371947306

ADGRV1

rs371947306 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADGRV1. Location: chromosome 5, position 90,124,769. 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
5:90124769
Cytoband
5q14.3
HGVS
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His)
Allele change
Missense_Q5459H

Associated conditions / phenotypes

Usher syndrome type 1|Usher syndrome type 2C

Public references

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