Variant (rsID / SNP)
rs797045602
rs797045602 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADGRG1. Location: chromosome 16, position 57,689,830. Clinical significance in the table: Pathogenic.
Reference-table entries
ADGRG1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 16:57689830
- Cytoband
- 16q21
- HGVS
- NM_201525.4(ADGRG1):c.944_945dup (p.Val316fs)
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.