Variant (rsID / SNP)

rs121908466

rs121908466 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADGRG1. Location: chromosome 16, position 57,685,310. Clinical significance in the table: Pathogenic.

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Reference-table entries

ADGRG1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:57685310
Cytoband: 16q21
HGVS: NM_201525.4(ADGRG1):c.263A>G (p.Tyr88Cys)
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.