Variant (rsID / SNP)

rs200644004

rs200644004 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADGRV1. Location: chromosome 5, position 90,074,281. 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: 5:90074281
Cytoband: 5q14.3
HGVS: NM_032119.4(ADGRV1):c.12704A>G (p.Tyr4235Cys)
Allele change: Missense_Y4235C

Associated conditions / phenotypes

Febrile seizures, familial, 4|Usher syndrome type 2C|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.