All variants in the FANCC gene

Information The variants shown are described using the NM_000136.2 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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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     
?/-? 2 c.77C>T p.(Ser26Phe) Hetero no r.(77c>u) - g.95249215G>A - FANCC_000005 - - Virginia Miretti-Hospital de Córdoba
?/? 2 c.77C>T p.(Ser26Phe) Hetero no r.(77c>u) - g.95249215G>A - FANCC_000005 - - Claudia Martin-Hospital de Córdoba
?/? 2 c.77C>T p.(Ser26Phe) Hetero no r.(77c>u) - g.95249215G>A - FANCC_000005 rs18100361 - Claudia Martin-Hospital de Córdoba
?/? 7 c.584A>T p.(Asp195Val) Hetero no r.(584a>u) - g.95150025T>A - FANCC_000004 - - Claudia Martin-Hospital de Córdoba
?/? 7 c.584A>T p.(Asp195Val) Hetero no r.(584a>u) - g.95150025T>A - FANCC_000004 - - Virginia Miretti-Hospital de Córdoba
?/? 7 c.632C>G p.(Pro211Arg) Hetero no r.(?) - g.95149977G>C - FANCC_000001 - - Claudia Martin-Hospital de Córdoba
+/+ 11 c.1069C>T p.(Gln357*) Hetero N/A r.(?) - g.95117318G>A - FANCC_000003 - - Virginia Miretti-Hospital de Córdoba
?/? 13 c.1429G>A p.(Glu17Lys) Hetero no r.? - g.95111543C>T - FANCC_000006 rs140687953 - Norma Rossi - Sanatorio Allende
?/? 15 c.1607T>C p.(Leu536Pro) Hetero no r.(?) - g.95101777A>G - FANCC_000002 - - Norma Rossi-Hospital de Córdoba
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