Gene entry
MCPH1
microcephalin 1
- Chromosome
- 8
- Cytoband
- 8p23.1
- Variants (rsID)
- 86
MCPH1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 8 (region 8p23.1). Its official name is “microcephalin 1”. The reference table lists 86 variants (rsID) for this gene.
Clinically classified variants
23 reference-table entries with clinical significance.
- rs1057090Benignsingle nucleotide variantMicrocephaly 1, primary, autosomal recessive
- rs1057091Benignsingle nucleotide variantMicrocephaly 1, primary, autosomal recessive
- rs12674488Benignsingle nucleotide variantMicrocephaly 1, primary, autosomal recessive
- rs146351889Benignsingle nucleotide variantMicrocephaly 1, primary, autosomal recessive
- rs1550697Benignsingle nucleotide variantMicrocephaly 1, primary, autosomal recessive
- rs186547090Benignsingle nucleotide variantMicrocephaly 1, primary, autosomal recessive
- rs2083914Benignsingle nucleotide variantMicrocephaly 1, primary, autosomal recessive
- rs2442513Benignsingle nucleotide variant
- rs2584Benignsingle nucleotide variantMicrocephaly 1, primary, autosomal recessive
- rs35590577Benignsingle nucleotide variantMicrocephaly 1, primary, autosomal recessive
- rs41313954Benignsingle nucleotide variantMicrocephaly 1, primary, autosomal recessive
- rs75741316Benignsingle nucleotide variantMicrocephaly 1, primary, autosomal recessive
- rs146586991Conflicting interpretationssingle nucleotide variantMicrocephaly 1, primary, autosomal recessive
- rs186136373Conflicting interpretationssingle nucleotide variant
- rs200401940Conflicting interpretationssingle nucleotide variantMicrocephaly 1, primary, autosomal recessive
- rs201599657Conflicting interpretationssingle nucleotide variantMicrocephaly 1, primary, autosomal recessive|Intellectual disability|Autosomal recessive primary microcephaly
- rs41313948Conflicting interpretationssingle nucleotide variantMicrocephaly 1, primary, autosomal recessive
- rs45540031Conflicting interpretationssingle nucleotide variantMicrocephaly 1, primary, autosomal recessive
- rs61749465Conflicting interpretationssingle nucleotide variantMicrocephaly 1, primary, autosomal recessive
- rs727504012Conflicting interpretationssingle nucleotide variant
- rs2290145Likely benignsingle nucleotide variant
- rs2916747Likely benignsingle nucleotide variant
- rs199422125PathogenicDuplicationMicrocephaly 1, primary, autosomal recessive|Abnormality of brain morphology
Other listed variants
- rs2433150
- rs2442562
- rs2442571
- rs2442581
- rs2442589
- rs2454517
- rs2454518
- rs2515521
- rs2515525
- rs2916733
- rs2922806
- rs2922852
- rs2922856
- rs2922859
- rs2980663
- rs3020246
- rs3020249
- rs3020264
- rs3020265
- rs3020276
- rs4841336
- rs6995735
- rs7018378
- rs7839389
- rs9657427
- rs11774231
- rs11776182
- rs11785507
- rs13253668
- rs13276344
- rs17556107
- rs17570753
- rs35533250
- rs41312806
- rs56076232
- rs62496825
- rs62496919
- rs62496920
- rs62496949
- rs62504861
- rs71525749
- rs73184423
- rs73196775
- rs73196779
- rs73196796
- rs75036874
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.