MCPH1 Chromosome 8
Microcephalin 1
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What This Gene Does
This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
Associated Conditions (15)
Autosomal recessive primary microcephaly
Microcephaly 1
primary
autosomal recessive
MCPH1-related disorder
Inborn genetic diseases
Intellectual disability
Short stature
Thyroid cancer
nonmedullary
1
Acute myeloid leukemia
See cases
Abnormal brain morphology
Abnormality of the nervous system
Key Variants
RS115033462
Conflicting classifications of pathogenicity
Health Risk
RS1315452792
Conflicting classifications of pathogenicity
Autosomal recessive primary microcephaly, Microcephaly 1, primary
Health Risk
RS138218829
Conflicting classifications of pathogenicity
Microcephaly 1, primary, autosomal recessive
Health Risk
RS139607465
Conflicting classifications of pathogenicity
Microcephaly 1, primary, autosomal recessive
Health Risk
RS139678787
Conflicting classifications of pathogenicity
Health Risk
RS141218500
Conflicting classifications of pathogenicity
Microcephaly 1, primary, autosomal recessive
Health Risk
RS146586991
Conflicting classifications of pathogenicity
Microcephaly 1, primary, autosomal recessive
Health Risk
RS146744659
Conflicting classifications of pathogenicity
Microcephaly 1, primary, autosomal recessive
Health Risk
RS148526209
Conflicting classifications of pathogenicity
Microcephaly 1, primary, autosomal recessive
Health Risk
RS17077744
Conflicting classifications of pathogenicity
Microcephaly 1, primary, autosomal recessive
Health Risk
RS183880522
Conflicting classifications of pathogenicity
Health Risk
RS185736569
Conflicting classifications of pathogenicity
Health Risk
All Variants (141)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115033462 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1315452792 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive primary microcephaly, Microcephaly 1, primary |
| RS138218829 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 1, primary, autosomal recessive |
| RS139607465 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 1, primary, autosomal recessive |
| RS139678787 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS141218500 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 1, primary, autosomal recessive |
| RS146586991 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 1, primary, autosomal recessive |
| RS146744659 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 1, primary, autosomal recessive |
| RS148526209 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 1, primary, autosomal recessive |
| RS17077744 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 1, primary, autosomal recessive |
| RS183880522 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS185736569 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS186136373 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS187466318 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 1, primary, autosomal recessive |
| RS189380942 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 1, primary, autosomal recessive |
| RS191104356 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 1, primary, autosomal recessive |
| RS192003514 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199700538 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 1, primary, autosomal recessive |
| RS199724219 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 1, primary, autosomal recessive |
| RS199861426 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 1, primary, autosomal recessive |
| RS199951156 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200289785 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 1, primary, autosomal recessive |
| RS200346652 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 1, primary, autosomal recessive |
| RS200401940 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 1, primary, autosomal recessive |
| RS200446680 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 1, primary, autosomal recessive |
| RS200814676 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 1, primary, autosomal recessive |
| RS201026769 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 1, primary, autosomal recessive |
| RS201039834 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 1, primary, autosomal recessive |
| RS201231900 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 1, primary, autosomal recessive |
| RS201261159 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 1, primary, autosomal recessive |
| RS201403389 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 1, primary, autosomal recessive |
| RS201599657 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 1, primary, autosomal recessive |
| RS202015253 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 1, primary, autosomal recessive |
| RS202241113 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 1, primary, autosomal recessive |
| RS2583 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 1, primary, autosomal recessive |
| RS35614690 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 1, primary, autosomal recessive |
| RS35999761 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 1, primary, autosomal recessive |
| RS368612589 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS368712550 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS369120387 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS369127299 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 1, primary, autosomal recessive |
| RS370543894 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 1, primary, autosomal recessive |
| RS370831760 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Microcephaly 1, primary |
| RS372450763 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 1, primary, autosomal recessive |
| RS374596700 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 1, primary, autosomal recessive |
| RS375022779 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 1, primary, autosomal recessive |
| RS377400638 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS41313948 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 1, primary, autosomal recessive |
| RS41313952 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 1, primary, autosomal recessive |
| RS45540031 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 1, primary, autosomal recessive |