Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

RB1

Gene name: retinoblastoma 1
OMIM ID: 614041
Chromosome location: 13q14.2

Mutations

Disease/PhenotypeRetinoblastoma
Reference transcriptNM_000321.2
DNA Changec.1072C>T
A.A. Changep.Arg358X
Exon/Intronexon 11
Mutation Typesubstitution
ReferenceAbidi O, Knari S, Sefri H, Charif M, Senechal A, Hamel C, Rouba H, Zaghloul K, El Kettani A, Lenaers G, Barakat A.Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma.
Mol Vis. 2011;17:3541-7. Epub 2011 Dec 30.
Disease/PhenotypeRetinoblastoma
Reference transcriptNM_000321.2
DNA Changec.1363C>T
A.A. Changep.Arg455X
Exon/Intronexon 14
Mutation Typesubstitution
ReferenceAbidi O, Knari S, Sefri H, Charif M, Senechal A, Hamel C, Rouba H, Zaghloul K, El Kettani A, Lenaers G, Barakat A.Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma.
Mol Vis. 2011;17:3541-7. Epub 2011 Dec 30.
Disease/PhenotypeRetinoblastoma
Reference transcriptNM_000321.2
DNA Changec.1654C>T
A.A. Changep.Arg552X
Exon/Intronexon 17
Mutation Typesubstitution
ReferenceAbidi O, Knari S, Sefri H, Charif M, Senechal A, Hamel C, Rouba H, Zaghloul K, El Kettani A, Lenaers G, Barakat A.Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma.
Mol Vis. 2011;17:3541-7. Epub 2011 Dec 30.
Disease/PhenotypeRetinoblastoma
Reference transcriptNM_000321.2
DNA Changec.1814+74A>G
A.A. Change
Exon/IntronIntron 19
Mutation Typesubstitution
ReferenceAbidi O, Knari S, Sefri H, Charif M, Senechal A, Hamel C, Rouba H, Zaghloul K, El Kettani A, Lenaers G, Barakat A.Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma.
Mol Vis. 2011;17:3541-7. Epub 2011 Dec 30.
Disease/PhenotypeRetinoblastoma
Reference transcriptNM_000321.2
DNA Changec.1939_1940delCT
A.A. Changep.Lys647PhefsX4
Exon/Intronexon 19
Mutation Typedeletion
ReferenceAbidi O, Knari S, Sefri H, Charif M, Senechal A, Hamel C, Rouba H, Zaghloul K, El Kettani A, Lenaers G, Barakat A.Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma.
Mol Vis. 2011;17:3541-7. Epub 2011 Dec 30.
Disease/PhenotypeRetinoblastoma
Reference transcriptNM_000321.2
DNA Changec.1953T>G
A.A. Changep.Tyr651>X
Exon/Intronexon 19
Mutation Typesubstitution
ReferenceAbidi O, Knari S, Sefri H, Charif M, Senechal A, Hamel C, Rouba H, Zaghloul K, El Kettani A, Lenaers G, Barakat A.Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma.
Mol Vis. 2011;17:3541-7. Epub 2011 Dec 30.
Disease/PhenotypeRetinoblastoma
Reference transcriptNM_000321.2
DNA Changec.1954A>T
A.A. Changep.Lys652X
Exon/IntronExon 19
Mutation Typesubstitution
ReferenceAbidi O, Knari S, Sefri H, Charif M, Senechal A, Hamel C, Rouba H, Zaghloul K, El Kettani A, Lenaers G, Barakat A.Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma.
Mol Vis. 2011;17:3541-7. Epub 2011 Dec 30.
Disease/PhenotypeRetinoblastoma
Reference transcriptNM_000321.2
DNA Changec.2359C>T
A.A. Changep.Arg787X
Exon/Intronexon 23
Mutation Typesubstitution
ReferenceAbidi O, Knari S, Sefri H, Charif M, Senechal A, Hamel C, Rouba H, Zaghloul K, El Kettani A, Lenaers G, Barakat A.Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma.
Mol Vis. 2011;17:3541-7. Epub 2011 Dec 30.
Disease/PhenotypeRetinoblastoma
Reference transcriptNM_000321.2
DNA Changec.371_372delTA
A.A. Changep.Ile124ArgfsX5
Exon/Intronexon 3
Mutation Typedeletion
ReferenceAbidi O, Knari S, Sefri H, Charif M, Senechal A, Hamel C, Rouba H, Zaghloul K, El Kettani A, Lenaers G, Barakat A.Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma.
Mol Vis. 2011;17:3541-7. Epub 2011 Dec 30.
Disease/PhenotypeRetinoblastoma
Reference transcriptNM_000321.2
DNA Changec.640delA
A.A. Changep.Ile214PhefsX4
Exon/Intronexon 7
Mutation Typedeletion
ReferenceAbidi O, Knari S, Sefri H, Charif M, Senechal A, Hamel C, Rouba H, Zaghloul K, El Kettani A, Lenaers G, Barakat A.Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma.
Mol Vis. 2011;17:3541-7. Epub 2011 Dec 30.
Disease/PhenotypeRetinoblastoma
Reference transcriptNM_000321.2
DNA Changec.719?2A>G
A.A. ChangeAltered splicing
Exon/IntronIntron 7
Mutation Typesubstitution
ReferenceAbidi O, Knari S, Sefri H, Charif M, Senechal A, Hamel C, Rouba H, Zaghloul K, El Kettani A, Lenaers G, Barakat A.Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma.
Mol Vis. 2011;17:3541-7. Epub 2011 Dec 30.