Unique variants in gene FANCF

Information The variants shown are described using the NM_022725.3 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. 5 - c.-31T>C r.(=) p.(=) g.22647387A>G - FANCF_000004 - - - - Despoina Kalfakakou
./. 2 - c.-21A>G r.(=) p.(=) g.22647377T>C - FANCF_000010 - - - - Despoina Kalfakakou
./. 3 - c.-10C>G r.(=) p.(=) g.22647366G>C - FANCF_000003 rs3740615 - - - Despoina Kalfakakou
./. 1 - c.101C>T r.(?) p.(Ala34Val) g.22647256G>A - FANCF_000013 - - - - Despoina Kalfakakou
./. 2 - c.148C>T r.(?) p.(Arg50Trp) g.22647209G>A - FANCF_000014 - - - - Despoina Kalfakakou
./. 1 - c.149G>C r.(?) p.(Arg50Pro) g.22647208C>G - FANCF_000018 - - - - Despoina Kalfakakou
./. 14 - c.241G>T r.(?) p.(Ala81Ser) g.22647116C>A - FANCF_000002 - - - - Despoina Kalfakakou
./. 24 - c.373G>A r.(?) p.(Asp125Asn) g.22646984C>T - FANCF_000001 rs61752920 - - - Despoina Kalfakakou
./. 1 - c.385C>G r.(?) p.(Leu129Val) g.22646972G>C - FANCF_000016 rs61753271 - - - Despoina Kalfakakou
./. 1 - c.448G>A r.(?) p.(Gly150Ser) g.22646909C>T - FANCF_000008 - - - - Despoina Kalfakakou
./. 1 - c.448G>C r.(?) p.(Gly150Arg) g.22646909C>G - FANCF_000021 - - - - Despoina Kalfakakou
./. 5 - c.573C>G r.(?) p.(Ser191Arg) g.22646784G>C - FANCF_000007 - - - - Despoina Kalfakakou
./. 1 - c.633G>T r.(?) p.(Gln211His) g.22646724C>A - FANCF_000023 - - - - Despoina Kalfakakou
./. 1 - c.639T>C r.(=) p.(=) g.22646718A>G - FANCF_000019 - - - - Despoina Kalfakakou
./. 1 - c.647G>C r.(?) p.(Arg216Pro) g.22646710C>G - FANCF_000015 - - - - Despoina Kalfakakou
./. 2 - c.687A>T r.(=) p.(=) g.22646670T>A - FANCF_000020 - - - - Despoina Kalfakakou
./. 3 - c.699G>A r.(=) p.(=) g.22646658C>T - FANCF_000009 - - - - Despoina Kalfakakou
./. 1 - c.802C>G r.(?) p.(Pro268Ala) g.22646555G>C - FANCF_000017 - - - - Despoina Kalfakakou
./. 1 - c.807G>A r.(=) p.(=) g.22646550C>T - FANCF_000012 - - - - Despoina Kalfakakou
./. 5 - c.873A>G r.(=) p.(=) g.22646484T>C - FANCF_000006 - - - - Despoina Kalfakakou
./. 4 - c.936A>T r.(?) p.(Gln312His) g.22646421T>A - FANCF_000005 - - - - Despoina Kalfakakou
./. 1 - c.976C>T r.(=) p.(=) g.22646381G>A - FANCF_000022 - - - - Despoina Kalfakakou
./. 1 - c.1115G>A r.(?) p.(Ser372Asn) g.22646242C>T - FANCF_000011 - - - - Despoina Kalfakakou
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