All variants in the MCPH1 gene

Information The variants shown are described using the NM_024596.2 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. - c.427dup r.(?) p.(Thr143Asnfs*5) - pathogenic g.6293674dup g.6436153dup NM_024596: c.421_422insA; p.Q141fs - MCPH1_000003 - PubMed: Karaca 2015 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.863C>A r.(?) p.(Pro288His) - likely benign g.6302106C>A g.6444585C>A - - MCPH1_000055 39 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35590577 Germline - 39/2793 individuals - 0 - Mohammed Faruq
?/. - c.1782G>A r.(=) p.(=) - VUS g.6303025G>A g.6445504G>A - - MCPH1_000001 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.1825+2956G>A - p.(=) - VUS g.6306024G>A g.6448503G>A - - MCPH1_000002 - - - - Germline - - - - - Yu Sun
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