Variant (rsID / SNP)
rs146954342
rs146954342 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADGRV1. Location: chromosome 5, position 89,970,013. 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
- 5:89970013
- Cytoband
- 5q14.3
- HGVS
- NM_032119.4(ADGRV1):c.5072C>T (p.Thr1691Met)
- Allele change
- Missense_T1691M
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
