Variant (rsID / SNP)

rs17379472

rs17379472 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADGRG1. Location: chromosome 16, position 57,693,498. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ADGRG1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:57693498
Cytoband: 16q21
HGVS: NM_201525.4(ADGRG1):c.1460T>C (p.Met487Thr)
Allele change: Missense_M323T

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.