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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
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Missense ASPM 1258delTCTCAAG Frame shift mutation & PTC 2002/Bond et al., 2002
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Deletion ASPM 9159delA Frame shift mutation & PTC 2002/Bond et al., 2002
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Nonsense ASPM 349C>T Arg117* Premature Termination 2003/Bond et al., 2003
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Nonsense ASPM 1990C>T Glu664* Premature Termination 2003/Bond et al., 2003
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Nonsense ASPM 4795C>T Arg1599* Premature Termination 2003/Bond et al., 2003
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Nonsense ASPM 2939C>T Arg980* Premature Termination 2009/Muhammad et al., 2009
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Nonsense ASPM 3055C>T Arg1019* Premature Termination 2009/Muhammad et al., 2009
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Nonsense ASPM 3978G>A Trp1326 Premature Termination 2006/Gul et al., 2006
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Nonsense ASPM 5136C>A Tyr1712* Premature Termination 2007/Gul et al., 2007
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Nonsense ASPM 7761T>G Tyr2587* Premature Termination 2002/Bond et al., 2002
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Nonsense ASPM 7894C>T Glu2632* Premature Termination 2009/Muhammad et al., 2009
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Nonsense ASPM 8668C>T Gln2890* Premature Termination 2009/Muhammad et al., 2009
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Nonsense ASPM 9190C>T Arg3064* Premature Termination 2003/Bond et al., 2003
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Nonsense ASPM 9238A>T Leu3080* Premature Termination 2006/Gul et al., 2006
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Nonsense ASPM 9319C>T Arg3107* Premature Termination 2009/Muhammad et al., 2009
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Nonsense ASPM 9492T>G Tyr3164* Premature Termination 2009/Muhammad et al., 2009
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Nonsense ASPM 9557C>G Ser3186* Premature Termination 2003/Bond et al., 2003
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Nonsense ASPM 9595A>T Lys3199* Premature Termination 2009/Muhammad et al., 2009
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Nonsense ASPM 9697C>T Arg3233 Premature Termination 2009/Muhammad et al., 2009
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Nonsense ASPM 9730C>T Arg3244* Premature Termination 2007/Gul et al., 2007
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Nonsense ASPM 10059C>A Tye3353* Premature Termination 2007/Gul et al., 2007
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Deletion ASPM 719_720delCT Ser240fs Frame shift mutation 2002/Bond et al., 2002
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Deletion ASPM 1002delA Val335fs Frame shift mutation 2009/Muhammad et al., 2009
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Deletion ASPM 1258_1264del Gln461fs Frame shift mutation 2002/Bond et al., 2002
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Deletion ASPM 1260delTCAAGTC Frame shift mutation 2006/Gul et al., 2006
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Deletion ASPM 3477_3481del Ala1160fs Frame shift mutation 2009/Muhammad et al., 2009
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Deletion ASPM 3663delG Arg1221fs Frame shift mutation 2003/Bond et al., 2003
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Deletion ASPM 4581delA Lys1528fs Frame shift mutation 2003/Bond et al., 2003
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Deletion ASPM 5149delA Ile1717* Premature Termination 2007/Gul et al., 2007
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Deletion ASPM 6732delA Tyr2245fs Frame shift mutation 2009/Muhammad et al., 2009
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Deletion ASPM 7895_7896delAG Lys2633fs Frame shift mutation 2003/Bond et al., 2003
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Deletion ASPM 8508delGA Lys2837fs Frame shift mutation 2003/Bond et al., 2003
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Insertion ASPM 9118_9119insCATT Tyr3040fs Frame shift mutation 2006/Gul et al., 2006
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Insertion ASPM 9677insG Cys3226fs Frame shift mutation 2009/Muhammad et al., 2009
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Missense ASPM 9539A>C Gln3180Pro Amino Acid Substitution 2006/Gul et al., 2006
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Splice site ASPM IVS9+5G>T SDS Removal 2003/Bond et al., 2003
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Splice site ASPM IVS95GrT (29365GrT) 2003/Bond et al., 2003
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 ASPM 3082G>A Removes SDS, additional 3 aa then stop 2003/Bond et al., 2003
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Splice site ASPM IVS251GrT (99841G>T) Removes SDS, additional 29 aa then stop 2003/Bond et al., 2003
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Nonsense ASPM 2101C>T Gln701* Premature Termination 2010/Kousar et al., 2010
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Deletion ASPM 6686delGAAA Arg2229Tfs*9 Frame shift mutation & PTC 2010/Kousar et al., 2010
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Deletion ASPM 77delG Gly26Alafs*41 Frame shift mutation & PTC 2010/Kousar et al., 2010
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Nonsense ASPM 2967G>A Trp989* Premature Termination 0/Nicholas et al., 2009
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Deletion ASPM 8200_8201delAA Asn2734Leufs*16 Frame shift mutation & PTC 0/Sajid et al., 2013
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Missense ASPM 4784A>C Gln1595Pro Amino Acid Substitution 0/Gul et al., 2006
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Nonsense ASPM 4435C>T Arg1479* Premature Termination 0/Nicholas et al., 2009
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Deletion ASPM 7782_7783delGA Lys2595Serfs*6 Frame shift mutation & PTC 0/Nicholas et al., 2009
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Insertion ASPM 5606_5607insC His1870Thrfs*26 Frame shift mutation & PTC 0/Kraemer et al., 2016
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Splice site ASPM g.197125193 T>C 0/Kraemer et al., 2016
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Deletion ASPM 2420delG Gly807Glufs*7 FS & PTC 0/Ahmad et al., 2017
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Nonsense ASPM 8098C>T Arg2700* 0/Ahmad et al., 2017
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Deletion ASPM 6851_6854delTCTC Leu2285Argfs*6 FS & PTC 0/Ahmad et al., 2017
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Nonsense ASPM 4212G>A Trp1404* 0/Ahmad et al., 2017
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Deletion ASPM 1235_1239delAAGTA Lys412Thrfs*5 FS & PTC 0/Ahmad et al., 2017
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Deletion ASPM 3491_3494delGTAC Arg3491Leufs*15 FS & PTC 0/Ahmad et al., 2017
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Deletion ASPM 8508_8509delGA Lys2837Metfs*34 FS & PTC 0/Ahmad et al., 2017
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Nonsense ASPM 5959C>T Gln1987* PTC 0/Ahmad et al., 2017
MCPH5 (ASPM) Microcephaly Autosomal Recessive 1q31.3 Nonsense ASPM 7543C>T Arg2515* PTC 0/Khan et al., 2018