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Variant (rsID / SNP)

rs201599657

MCPH1ANGPT2

rs201599657 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MCPH1, ANGPT2. Location: chromosome 8, position 6,357,381. 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
8:6357381
Cytoband
8p23.1
HGVS
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter)
Allele change
Nonsense_W715X

Associated conditions / phenotypes

Microcephaly 1, primary, autosomal recessive|Intellectual disability|Autosomal recessive primary microcephaly

Public references

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