Variant (rsID / SNP)

rs199422125

rs199422125 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MCPH1. Location: chromosome 8, position 6,293,668. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MCPH1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: Duplication
Chromosome / position: 8:6293668
Cytoband: 8p23.1
HGVS: NM_024596.5(MCPH1):c.427dup (p.Thr143fs)

Associated conditions / phenotypes

Microcephaly 1, primary, autosomal recessive|Abnormality of brain morphology

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.