Variant (rsID / SNP)

rs796065306

rs796065306 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADCY5. Location: chromosome 3, position 123,038,601. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ADCY5Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:123038601
Cytoband: 3q21.1
HGVS: NM_183357.3(ADCY5):c.2176G>A (p.Ala726Thr)
Allele change: Missense_A376T

Associated conditions / phenotypes

Dyskinesia with orofacial involvement, autosomal dominant

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.