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Details Of NON Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
MCPH2 (WDR62) Microcephaly Autosomal Recessive 19q13.12 Missense WDR62 332G>C Arg111Thr Amino Acid Substitution 2013/Hussain et al., 2013
MCPH2 (WDR62) Microcephaly Autosomal Recessive 19q13.12 Nonsense WDR62 1194G>A Trp398* Premature Termination 2013/Hussain et al., 2013
MCPH2 (WDR62) Microcephaly Autosomal Recessive 19q13.12 Missense WDR62 1313G>A Arg438His Amino Acid Substitution 2013/Hussain et al., 2013
MCPH2 (WDR62) Microcephaly Autosomal Recessive 19q13.12 Deletion WDR62 3361delG Ala1121Glnfs*6 Frame shift mutation & PTC 2013/Hussain et al., 2013
MCPH2 (WDR62) Microcephaly Autosomal Recessive 19q13.12 Nonsense WDR62 3503G>A Trp1168* Premature Termination 2013/Hussain et al., 2013
MCPH2 (WDR62) Microcephaly Autosomal Recessive 19q13.12 Deletion WDR62 1143delA His381Profs*48 Frame shift mutation & PTC 2013/Memon et al., 2013
MCPH2 (WDR62) Microcephaly Autosomal Recessive 19q13.12 Missense WDR62 1531G>A Asp511Asn Amino Acid Substitution 2011/Kousar et al., 2011
MCPH2 (WDR62) Microcephaly Autosomal Recessive 19q13.12 Insertion WDR62 3936_3937insC Val1314Argfs*18 Frame shift mutation & PTC 2011/Kousar et al., 2011
MCPH2 (WDR62) Microcephaly Autosomal Recessive 19q13.12 Nonsense WDR62 1942C>T Gln648* Premature Termination 2011/Kousar et al., 2011
MCPH2 (WDR62) Microcephaly Autosomal Recessive 19q13.12 Missense WDR62 3232G>A Ala1078Thr Amino Acid Substitution 2010/Nicholas et al., 2010
MCPH2 (WDR62) Microcephaly Autosomal Recessive 19q13.12 Duplication WDR62 4241dupT Leu1414Leufs*41 Frame shift mutation & PTC 2010/Nicholas et al., 2010