Variant (rsID / SNP)
rs202211640
rs202211640 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADGRV1. Location: chromosome 5, position 90,004,717. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ADGRV1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:90004717
- Cytoband
- 5q14.3
- HGVS
- NM_032119.4(ADGRV1):c.8815C>T (p.Pro2939Ser)
- Allele change
- Missense_P2939S
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
