Variant (rsID / SNP)

rs879255538

rs879255538 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADGRG2. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ADGRG2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Cytoband: Xp22.13
HGVS: NM_001079858.3(ADGRG2):c.2845del (p.Cys949fs)

Associated conditions / phenotypes

Congenital bilateral aplasia of vas deferens from CFTR mutation|Vas deferens, congenital bilateral aplasia of, X-linked

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.