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Variant (rsID / SNP)

rs727504012

MCPH1

rs727504012 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MCPH1. Location: chromosome 8, position 6,289,083. 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
8:6289083
Cytoband
8p23.1
HGVS
NM_024596.5(MCPH1):c.297C>T (p.His99=)
Allele change
Synonymous_H99H

Public references

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