Variant (rsID / SNP)
rs1057091
rs1057091 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MCPH1. Location: chromosome 8, position 6,500,544. Clinical significance in the table: Benign.
Reference-table entries
MCPH1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:6500544
- Cytoband
- 8p23.1
- HGVS
- NM_024596.5(MCPH1):c.2482C>T (p.Pro828Ser)
- Allele change
- Missense_P828S
Associated conditions / phenotypes
Microcephaly 1, primary, autosomal recessive
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.