Variant (rsID / SNP)
rs371981035
rs371981035 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADGRV1. Location: chromosome 5, position 90,106,048. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
ADGRV1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:90106048
- Cytoband
- 5q14.3
- HGVS
- NM_032119.4(ADGRV1):c.14973-2A>G
- Allele change
- Silent
Associated conditions / phenotypes
Rare genetic deafness|Retinal dystrophy|Usher syndrome type 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.