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Variant (rsID / SNP)

rs200816323

ADGRV1

rs200816323 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADGRV1. Location: chromosome 5, position 90,059,182. 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
5:90059182
Cytoband
5q14.3
HGVS
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe)
Allele change
Missense_V4061F

Associated conditions / phenotypes

Usher syndrome type 2C|Febrile seizures, familial, 4|Usher syndrome type 2C|Hearing impairment

Public references

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