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Variant (rsID / SNP)

rs113358058

ADGRG1

rs113358058 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADGRG1. Location: chromosome 16, position 57,695,754. 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
16:57695754
Cytoband
16q21
HGVS
NM_201525.4(ADGRG1):c.1810C>T (p.Leu604=)
Allele change
Synonymous_L440L

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.