Variant (rsID / SNP)

rs121908462

rs121908462 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADGRG1. Location: chromosome 16, position 57,685,159. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

ADGRG1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:57685159
Cytoband: 16q21
HGVS: NM_201525.4(ADGRG1):c.112C>T (p.Arg38Trp)
Allele change: Silent

Associated conditions / phenotypes

Bilateral frontoparietal polymicrogyria|Abnormality of the nervous system

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.