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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
Hypotrichosis Type 8 (LPAR6) Hypotrichosis Autosomal Recessive 13q14.2 Missense LPAR6 (P2RY5) 8G>C Ser3Thr Amino Acid Substitution Azeem et al., 2008/2008
Hypotrichosis Type 8 (LPAR6) Hypotrichosis Autosomal Recessive 13q14.2 Missense LPAR6 (P2RY5) 436G>A Gly146Arg Amino Acid Substitution Azeem et al., 2008/2008
Hypotrichosis Type 8 (LPAR6) Hypotrichosis Autosomal Recessive 13q14.2 Insertion 36insA Asp13Argfs*4 Pre-mature Termination Azeem et al., 2008/2008
Hypotrichosis Type 8 (LPAR6) Hypotrichosis Autosomal Recessive 13q14.2 Insertion LPAR6 (P2RY5) 160insA Thr54Asnfs*5 Pre-mature Termination Azeem et al., 2008/2008
Hypotrichosis Type 8 (LPAR6) Hypotrichosis Autosomal Recessive 13q14.2 Insertion LPAR6 (P2RY5) 66_69insCATG Phe24Hisfs*29 FS & PTC Tariq et al., 2009/2009
Hypotrichosis Type 8 (LPAR6) Hypotrichosis Autosomal Recessive 13q14.2 Missense LPAR6 (P2RY5) 188A>T Asp63Val Amino Acid Substitution Tariq et al., 2009/2009
Hypotrichosis Type 8 (LPAR6) Hypotrichosis Autosomal Recessive 13q14.2 Missense LPAR6 (P2RY5) 565G>A Glu189Lys Amino Acid Substitution Tariq et al., 2009/2009
Hypotrichosis Type 8 (LPAR6) Hypotrichosis Autosomal Recessive 13q14.2 Missense LPAR6 (P2RY5) 742A>T Asn248Tyr Amino Acid Substitution Tariq et al., 2009/2009
Hypotrichosis Type 8 (LPAR6) Hypotrichosis Autosomal Recessive 13q14.2 Missense LPAR6 (P2RY5) 830T>C Leu277Pro Amino Acid Substitution Tariq et al., 2009/2009
Hypotrichosis Type 8 (LPAR6) Hypotrichosis Autosomal Recessive 13q14.2 Missense LPAR6 (P2RY5) 562A>T Ile188Phe Amino Acid Substitution Tariq et al., 2009/2009
Hypotrichosis Type 8 (LPAR6) Hypotrichosis Autosomal Recessive 13q14.2 Insertion/Deletion LPAR6 (P2RY5) 172_177del,insT Asn58Serfs*31 FS & Pre-mature Termination Shimomura et al., 2008/2008
Hypotrichosis Type 8 (LPAR6) Hypotrichosis Autosomal Recessive 13q14.2 Deletion LPAR6 (P2RY5) 410-426del17 Pre-mature Termination Kurban et al., 2013/2013
Hypotrichosis Type 8 (LPAR6) Hypotrichosis Autosomal Recessive 13q14.2 Missense LPAR6 (P2RY5) 409T>C Amino Acid Substitution Kurban et al., 2013/2013
Hypotrichosis Type 8 (LPAR6) Hypotrichosis Autosomal Recessive 13q14.2 Insertion LPAR6 (P2RY5) Ile194Phefs*11 FS & Pre-mature Termination Azhar et al., 2012/2012