All variants in the FANCM gene

Information The variants shown are described using the transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Owner     
?/? 7 c.1271G>A p.(Arg424His) Hetero BRCA2 r.(?) - g.45154784G>A - FANCM_000011 - - Cecilia Montes-IMGO
?/? 1 c.171G>C p.(Leu57Phe) Hetero BRCA1 . - g.45136202G>C - FANCM_000001 - - Claudia Martin-Hospital de Córdoba
?/? 1 c.187G>A p.(Glu63Lys) Hetero no r.(?) - = - FANCM_000012 - - Silvina Sisterna-Hospital de Comunidad
-?/- 11 c.1964A>G p.(Asn655Ser) Hetero no . RECLASSIFIED NOVEMBER 2020 g.45167125A>G - FANCM_000004 - - Norma Rossi-Hospital de Córdoba
?/-? 14 c.3513T>C p.(Pro1171=) Hetero no . RECLASSIFIED JULY 2022 g.45176267T>C - FANCM_000006 - - Norma Rossi-Hospital de Córdoba
?/? 16 c.4366C>T p.(Arg1456Cys) Hetero no r.(=) - g.45181685C>T - FANCM_000009 - - Silvina Sisterna-Hospital de Comunidad
?/? 17 c.4396T>C p.(Ser1466Pro) Hetero no . - g.45652986T>C - FANCM_000005 - - Dolores Mansilla-Instituto Roffo
?/? 1 c.44G>T p.(Ser15Ile) Hetero no . - g.45605278G>T - FANCM_000002 - - Claudia Martin-Hospital de Córdoba
?/- 20 c.4799C>T p.(Thr1600Ile) Hetero BRCA2 r.(4799c>u) - g.45188821C>T - FANCM_000010 - - Claudia Martin-Hospital de Córdoba
?/? 20 c.4817T>G p.(Phe1606Cys) Hetero no . - g.45658042T>G - FANCM_000003 - - Claudia Martin-Hospital de Córdoba
+/+ 22 c.5791C>T p.(Arg1931*) Hetero no r.(?) RECLASSIFIED NOVEMBER 2020. RISK FACTOR. g.45198718C>T - FANCM_000007 - - Norma Rossi-Hospital de Córdoba
?/- 23 c.6141T>C p.(=) Hetero no r.(=) - =? - FANCM_000012 - - Claudia Martin-Hospital de Córdoba
+/. 5 c.997C>T p.(Gln333*) Hetero ATM r.(?) - g.45620678C>T - FANCM_000008 - - Norma Rossi-Hospital de Córdoba
?/? 1 c.274C>T p.(Arg92Trp) Hetero no r.(274c>u) - g.45136305C>T - FANCM_000016 - - Laura Vargas Roig-IMBECU
?/? 4 c.869T>C p.(Ile290Thr) Hetero no r.(869u>c) - g.45148946T>C - FANCM_000014 - - Norma Rossi - Sanatorio Allende
+/+ 9 c.997C>T p.(Gln333*) Hetero N/A r.(997c>u) - g.45151475C>T - FANCM_000008 - - Norma Rossi - Fundacion Para el Progreso de la Medicina
?/? 13 c.2297A>G p.(Glu766Gly) Hetero no r.(?) - g.45173191A>G - FANCM_000020 rs139946652 - Claudia Martin-Hospital de Córdoba
?/-? 20 c.4799C>T p.(Thr1600Ile) Hetero no r.(4799c>u) - g.45188821C>T - FANCM_000010 - - Virginia Miretti-Hospital de Córdoba
?/-? 20 c.4799C>T p.(Thr1600Ile) Hetero PALB2 r.(4799c>u) - g.45188821C>T - FANCM_000010 - - Norma Rossi - Sanatorio Allende
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