Variant (rsID / SNP)

rs45540031

rs45540031 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MCPH1. Location: chromosome 8, position 6,479,161. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MCPH1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 8:6479161
Cytoband: 8p23.1
HGVS: NM_024596.5(MCPH1):c.2401A>G (p.Ser801Gly)
Allele change: Missense_S801G

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.