Variant (rsID / SNP)
rs147495708
rs147495708 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADGRG1. Location: chromosome 16, position 57,687,239. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ADGRG1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:57687239
- Cytoband
- 16q21
- HGVS
- NM_201525.4(ADGRG1):c.612C>T (p.Pro204=)
- Allele change
- Silent
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.