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Details Of Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Usher Syndrome type 1 (PCDH15) Hearing loss, RP Autosomal Recessive 10q21.1 Missense PCDH15 533A>G Asp178Gly Amino Acid Substitution Ahmed et al., 2008/2008
Usher Syndrome type 1 (PCDH15) Hearing loss, RP Autosomal Recessive 10q21.1 Splice site PCDH15 3717+1G>T splicing error Ahmed et al., 2008/2008
Usher Syndrome type 1 (PCDH15) Hearing loss, RP Autosomal Recessive 10q21.1 Nonsense PCDH15 7C>T Arg3* Premature Termination Ahmed et al., 2008/2008
Usher Syndrome type 1 (PCDH15) Hearing loss, RP Autosomal Recessive 10q21.1 Nonsense PCDH15 1940C>G Ser647* Premature Termination Ahmed et al., 2008/2008
Usher Syndrome type 1 (PCDH15) Hearing loss, RP Autosomal Recessive 10q21.1 Nonsense PCDH15 2052C>A Tyr684* Premature Termination Ahmed et al., 2008/2008
Usher Syndrome type 1 (PCDH15) Hearing loss, RP Autosomal Recessive 10q21.1 Deletion PCDH15 2483delT Glu829Lysfs*12 Frame shift mutation & PTC Ahmed et al., 2008/2008
Usher Syndrome type 1 (PCDH15) Hearing loss, RP Autosomal Recessive 10q21.1 Deletion PCDH15 4257delA Leu1419Phefs*99 Frame shift mutation & PTC Ahmed et al., 2008/2008
Usher Syndrome type 1F (PCDH15) Hearing loss, RP Autosomal Recessive 10q21.1 Missense PCDH15 533A>G Asp178Gly Amino Acid Substitution Ahmed et al., 2008/2008
Usher Syndrome type 1F (PCDH15) Hearing loss, RP Autosomal Recessive 10q21.1 Splice site PCDH15 3717+1G>T splicing error Ahmed et al., 2008/2008
Usher Syndrome type 1F (PCDH15) Hearing loss, RP Autosomal Recessive 10q21.1 Nonsense PCDH15 7C>T Arg3* Premature Termination Ahmed et al., 2008/2008
Usher Syndrome type 1F (PCDH15) Hearing loss, RP Autosomal Recessive 10q21.1 Nonsense PCDH15 1940C>G Ser647* Premature Termination Ahmed et al., 2008/2008
Usher Syndrome type 1F (PCDH15) Hearing loss, RP Autosomal Recessive 10q21.1 Nonsense PCDH15 2052C>A Tyr684* Premature Termination Ahmed et al., 2008/2008
Usher Syndrome type 1F (PCDH15) Hearing loss, RP Autosomal Recessive 10q21.1 Deletion PCDH15 2483delT Glu829Lysfs*12 Frame shift mutation & PTC Ahmed et al., 2008/2008
Usher Syndrome type 1F (PCDH15) Hearing loss, RP Autosomal Recessive 10q21.1 Deletion PCDH15 4257delA Leu1419Phefs*99 Frame shift mutation & PTC Ahmed et al., 2008/2008
Usher Syndrome type 1F (PCDH15) Hearing loss, RP Autosomal Recessive 10q21.1 Splice site PCDH15 IVS27+2A>G Frame shift mutation Ahmed et al., 2001/2001
Usher Syndrome type 1F (PCDH15) Hearing loss, RP Autosomal Recessive 10q21.1 Nonsense PCDH15 1927C>T Arg643* Premature Termination Ahmed et al., 2003/2003
Usher Syndrome type 1F (PCDH15) Hearing loss, RP Autosomal Recessive 10q21.1 Missense PCDH15 1304A>C Asp435Ala Amino Acid Substitution Saleha et al., 2016/2016