Full data view for gene MCPH1

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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.427dup r.(?) p.(Thr143Asnfs*5) Both (homozygous) - pathogenic g.6293674dup g.6436153dup NM_024596: c.421_422insA; p.Q141fs - MCPH1_000003 - PubMed: Karaca 2015 - - Germline - - - 0 - DNA SEQ-NG-I - WES ? 26539891-FamBAB3640 PubMed: Karaca 2015 - - - - - - 0 family structure in paper - 2 Johan den Dunnen
-?/. - c.863C>A r.(?) p.(Pro288His) Parent #1 - likely benign g.6302106C>A g.6444585C>A - - MCPH1_000055 39 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs35590577 Germline - 39/2793 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 39 Mohammed Faruq
?/. - c.1782G>A r.(=) p.(=) Parent #1 - VUS g.6303025G>A g.6445504G>A - - MCPH1_000001 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD, TSC - PubMed: Almomani 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.1825+2956G>A - p.(=) Both (homozygous) - VUS g.6306024G>A g.6448503G>A - - MCPH1_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
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