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Retinoblastoma Wiki http://www.4s8.de/rb-wiki/ 2018-12-10T03:46:47+01:00 Retinoblastoma Wiki http://www.4s8.de/rb-wiki/ http://www.4s8.de/rb-wiki/lib/images/favicon.ico text/html 2014-08-19T11:01:34+01:00 Zerrin Onadim genetics:variants:thr307ile http://www.4s8.de/rb-wiki/doku.php?id=genetics:variants:thr307ile&rev=1408438894&do=diff1408438894 p.Thr307Ile * c.920C>T * g.61788C>T instances of observation * Patient 171 (To) uni, isol: Tumor and blood showed a non-germline heterozygous c.1853C>G (p.Ser618X) and non-germline heterozygous IVS8+1G>A (c.861+1G>A) in addition to heterozygous c.920C>T (p.Thr307Iso) (reported by Diane Rushlow, updated 01/2012) * Patient 836 (To) uni, isol: Hetero Thr307Iso in blood; no tumor available. Unaffected mother also carries this change (reported by Diane Rushlow) * Patient 4601 (E) het in … text/html 2014-01-08T15:58:19+01:00 Dietmar Lohmann start http://www.4s8.de/rb-wiki/doku.php?id=start&rev=1389193099&do=diff1389193099 [ ] Why this page? Missense/in-frame alterations often pose problems for biologic interpretation because it is not always clear if a given alteration is pathogenic or not. Our goal is to gather all observations of missense/in-frame changes (with is a special focus on the N-term of the pRb). All observations (tumors, patients, families) and all analytical findings (RNA studies) are valuable. text/html 2013-09-11T11:53:32+01:00 Stephanie Degen genetics:variants:arg621cys http://www.4s8.de/rb-wiki/doku.php?id=genetics:variants:arg621cys&rev=1378893212&do=diff1378893212 p.Arg621Cys Defining Data * c.1861C>T * g.153254C>T * reported 2 times (Berge et al. (2010) Mol Cancer. 2010 Jul 1;9:173., Breast cancer + (Unpublished) unilateral rb, found in blood and tumor) ---------- Classification of Pathogenicity text/html 2013-09-11T11:28:51+01:00 Stephanie Degen genetics:variants:list http://www.4s8.de/rb-wiki/doku.php?id=genetics:variants:list&rev=1378891731&do=diff1378891731 N-terminal missense/in-frame mutations (and a few silent mts) exon 1 * Met1Val * Met1Ile * Ala11dup * Ala14Ala (silent) * Ala16_Ala18del * Pro20Leu * Ala22Glu * Pro23Leu * Pro23_Pro24del * Pro29del * Arg46Lys_splice * Arg46Thr_splice text/html 2013-09-06T08:23:39+01:00 Dietmar Lohmann genetics:variants:leu569leu http://www.4s8.de/rb-wiki/doku.php?id=genetics:variants:leu569leu&rev=1378448619&do=diff1378448619 p.Leu569Leu Defining Data * c.1707A>G * g.15009A>G * observed 2 times (?, E2741) ---------- Classification of Pathogenicity strong evidence against pathogenicity * in phase with g.174438C>T (3UTR), g174353dup (intron 25), 174438C>T (intron 26) text/html 2012-01-03T17:37:55+01:00 Dietmar Lohmann management:rb1_genetics_guideline:mutation_identification_methods:sanger_sequencing http://www.4s8.de/rb-wiki/doku.php?id=management:rb1_genetics_guideline:mutation_identification_methods:sanger_sequencing&rev=1325608675&do=diff1325608675 ABI dye terminator chemistry SOP for dye terminator sequencing Evaluation of sequencing files (electropherograms) using Codon Code Aligner Codon Code Aligner Ressources * Tutorial * download text/html 2012-01-03T17:31:16+01:00 Dietmar Lohmann management:rb1_genetics_guideline http://www.4s8.de/rb-wiki/doku.php?id=management:rb1_genetics_guideline&rev=1325608276&do=diff1325608276 * Rb genetic testing strategies * Mutation identification methods * Biologic interpretation of genetic alterations * Genetic interpretation of genetic alterations text/html 2012-01-03T17:29:56+01:00 Dietmar Lohmann management:rb1_genetics_guideline:mutation_identification_methods http://www.4s8.de/rb-wiki/doku.php?id=management:rb1_genetics_guideline:mutation_identification_methods&rev=1325608196&do=diff1325608196 Germline mutations and somatic mutations * Sanger Sequencing * MLPA Somatic mutations only * Methylation analysis * LOH analysis