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Variant (rsID / SNP)

rs201236317

ADGRV1

rs201236317 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADGRV1. Location: chromosome 5, position 89,923,388. 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
5:89923388
Cytoband
5q14.3
HGVS
NM_032119.4(ADGRV1):c.1033C>A (p.Gln345Lys)
Allele change
Missense_Q345K

Public references

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