Variant (rsID / SNP)

rs1057090

rs1057090 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MCPH1. Location: chromosome 8, position 6,479,042. Clinical significance in the table: Benign.

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Reference-table entries

MCPH1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 8:6479042
Cytoband: 8p23.1
HGVS: NM_024596.5(MCPH1):c.2282C>T (p.Ala761Val)
Allele change: Missense_A761V

Associated conditions / phenotypes

Microcephaly 1, primary, autosomal recessive

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.