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Variant (rsID / SNP)

rs111939130

ADGRG1

rs111939130 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADGRG1. Location: chromosome 16, position 57,697,413. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ADGRG1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:57697413
Cytoband
16q21
HGVS
NM_201525.4(ADGRG1):c.1983T>C (p.Gly661=)
Allele change
Synonymous_G497G

Associated conditions / phenotypes

Bilateral frontoparietal polymicrogyria

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.