Variant (rsID / SNP)
rs2916747
rs2916747 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MCPH1, ANGPT2. Location: chromosome 8, position 6,371,291. Clinical significance in the table: Likely benign.
Reference-table entries
MCPH1Likely benign
- Clinical significance (as recorded)
- Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:6371291
- Cytoband
- 8p23.1
- HGVS
- NM_024596.5(MCPH1):c.2214+13841A>G
- Allele change
- Silent
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.