Variant (rsID / SNP)

rs16868972

rs16868972 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADGRV1. Location: chromosome 5, position 89,979,750. Clinical significance in the table: Benign.

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Reference-table entries

ADGRV1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:89979750
Cytoband: 5q14.3
HGVS: NM_032119.4(ADGRV1):c.6012G>T (p.Leu2004Phe)
Allele change: Missense_L2004F

Associated conditions / phenotypes

Usher syndrome type 2C

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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