Database

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

Retinoblastoma

OMIM:180200
Mode of inheritance:Autosomal dominant
Disease classification:Neoplasms

Mutations

Gene Symbol	RB1
Reference transcript	NM_000321.2
DNA Change	c.640delA
A.A. Change	p.Ile214PhefsX4
Exon/Intron	exon 7
Mutation Type	deletion
Reference	Abidi 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.

Gene Symbol	RB1
Reference transcript	NM_000321.2
DNA Change	c.371_372delTA
A.A. Change	p.Ile124ArgfsX5
Exon/Intron	exon 3
Mutation Type	deletion
Reference	Abidi 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.

Gene Symbol	RB1
Reference transcript	NM_000321.2
DNA Change	c.1939_1940delCT
A.A. Change	p.Lys647PhefsX4
Exon/Intron	exon 19
Mutation Type	deletion
Reference	Abidi 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.

Gene Symbol	RB1
Reference transcript	NM_000321.2
DNA Change	c.719?2A>G
A.A. Change	Altered splicing
Exon/Intron	Intron 7
Mutation Type	substitution
Reference	Abidi 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.

Gene Symbol	RB1
Reference transcript	NM_000321.2
DNA Change	c.2359C>T
A.A. Change	p.Arg787X
Exon/Intron	exon 23
Mutation Type	substitution
Reference	Abidi 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.

Gene Symbol	RB1
Reference transcript	NM_000321.2
DNA Change	c.1954A>T
A.A. Change	p.Lys652X
Exon/Intron	Exon 19
Mutation Type	substitution
Reference	Abidi 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.

Gene Symbol	RB1
Reference transcript	NM_000321.2
DNA Change	c.1953T>G
A.A. Change	p.Tyr651>X
Exon/Intron	exon 19
Mutation Type	substitution
Reference	Abidi 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.

Gene Symbol	RB1
Reference transcript	NM_000321.2
DNA Change	c.1814+74A>G
A.A. Change
Exon/Intron	Intron 19
Mutation Type	substitution
Reference	Abidi 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.

Gene Symbol	RB1
Reference transcript	NM_000321.2
DNA Change	c.1654C>T
A.A. Change	p.Arg552X
Exon/Intron	exon 17
Mutation Type	substitution
Reference	Abidi 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.

Gene Symbol	RB1
Reference transcript	NM_000321.2
DNA Change	c.1363C>T
A.A. Change	p.Arg455X
Exon/Intron	exon 14
Mutation Type	substitution
Reference	Abidi 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.

Gene Symbol	RB1
Reference transcript	NM_000321.2
DNA Change	c.1072C>T
A.A. Change	p.Arg358X
Exon/Intron	exon 11
Mutation Type	substitution
Reference	Abidi 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.

Related informations

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