Variant (rsID / SNP)

rs121908465

rs121908465 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADGRG1. Location: chromosome 16, position 57,685,319. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ADGRG1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:57685319
Cytoband: 16q21
HGVS: NM_201525.4(ADGRG1):c.272G>C (p.Cys91Ser)
Allele change: Silent

Associated conditions / phenotypes

Bilateral frontoparietal polymicrogyria

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.