Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs183633457

ADGRV1

rs183633457 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADGRV1. Location: chromosome 5, position 90,106,246. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

ADGRV1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:90106246
Cytoband
5q14.3
HGVS
NM_032119.4(ADGRV1):c.15169C>T (p.Pro5057Ser)
Allele change
Missense_P5057S

Associated conditions / phenotypes

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