Transcript #00000794 (NM_000136.2, FANCC gene)

Transcript name Fanconi anemia, complementation group C
Gene name FANCC (Fanconi anemia, complementation group C)
Chromosome 9
Transcript - NCBI ID NM_000136.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000127.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

792 entries on 8 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     
?/. 1 c.-262-4937_-79+3379del r.(?) p.? FA
+/+ _1_1i c.(?_-262)_-79+3686del r.(?) p.? FA
+/. 1 c.(?_-262)_(250+1_251-1)del r.0? p.0? FA
+/. 1 c.(?_-262)_(250+1_251-1)del r.0? p.0? FA
+/. 1 c.(?_-262)_(250+1_251-1)del r.0? p.0? FA
?/. - c.-78-2A>G r.spl? p.? -
?/. - c.-78-2A>G r.spl? p.? -
?/. - c.-78-1G>C r.spl? p.? -
?/. - c.-78-1G>C r.spl? p.? -
?/. - c.-78-1G>T r.spl? p.? -
?/. 1 c.-64C>T r.(?) p.? FA
?/. 2 c.8_9del r.(?) p.(Q3Rfs*7) FA
?/. 2 c.8_9del r.(?) p.(Q3Rfs*7) FA
?/. - c.9A>T r.(?) p.(Gln3His) -
?/. - c.9A>T r.(?) p.(Gln3His) -
?/. - c.14C>G r.(?) p.(Ser5*) -
?/. - c.16G>C r.(?) p.(Val6Leu) -
?/. - c.20A>C r.(?) p.(Asp7Ala) -
?/. - c.28del r.(?) p.(Cys10Valfs*36) -
?/. - c.28T>G r.(?) p.(Cys10Gly) -
?/. - c.28T>G r.(?) p.(Cys10Gly) -
-?/. - c.29G>A r.(?) p.(Cys10Tyr) -
?/. - c.29G>A r.(?) p.(Cys10Tyr) -
?/. - c.29G>A r.(?) p.(Cys10Tyr) -
?/. - c.35A>G r.(?) p.(Tyr12Cys) -
?/. - c.35A>G r.(?) p.(Tyr12Cys) -
+/. 1 c.37C>T r.(?) p.(Q13*) FA
+/. 1 c.37C>T r.(?) p.(Q13*) FA
+/. 1 c.37C>T r.(?) p.(Q13*) FA
+/. 1 c.37C>T r.(?) p.(Q13*) FA
+/. 1 c.37C>T r.(?) p.(Q13*) FA
+/. 1 c.37C>T r.(?) p.(Q13*) FA
+/. 1 c.37C>T r.(?) p.(Q13*) FA
+/. - c.37C>T r.(?) p.(Gln13*) -
+/. 1 c.37C>T r.(?) p.(Q13*) FA
+/. 1 c.37C>T r.(?) p.(Q13*) FA
+/. 1 c.37C>T r.(?) p.(Q13*) FA
+/. 1 c.37C>T r.(?) p.(Q13*) FA
+/. 1 c.37C>T r.(?) p.(Q13*) FA
?/. - c.37C>T r.(?) p.(Gln13*) -
?/. - c.46A>T r.(?) p.(Met16Leu) -
?/. - c.46A>T r.(?) p.(Met16Leu) -
?/. - c.62T>C r.(?) p.(Val21Ala) -
+/. 1 c.65G>A r.(?) p.(Trp22*) FA
+/. 1 c.65G>A r.(?) p.(W22*) FA
+/. 1 c.65G>A r.(?) p.(W22*) FA
+/. 1 c.65G>A r.(?) p.(W22*) FA
+/. 1 c.65G>A r.(?) p.(Trp22*) FA
+/. 1 c.65G>A r.(?) p.(Trp22*) FA
+/. 1 c.65G>A r.(?) p.(Trp22*) FA
+/. 1 c.65G>A r.(?) p.(Trp22*) FA
+/. 1 c.65G>A r.(?) p.(Trp22*) FA
+/. 1 c.65G>A r.(?) p.(Trp22*) FA
+/. 1 c.65G>A r.(?) p.(Trp22*) FA
+/. 1 c.65G>A r.(?) p.(W22*) FA
+/. 1 c.65G>A r.(?) p.(W22*) FA
+/. 1 c.65G>A r.(?) p.(W22*) FA
?/. - c.67del r.(?) p.(Asp23Ilefs*23) -
?/. - c.67del r.(?) p.(Asp23Ilefs*23) -
+/. - c.67del r.(?) p.(Asp23IlefsTer23) -
+?/. - c.67del r.(?) p.(Asp23IlefsTer23) -
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA
+?/. - c.67del r.(?) p.(Asp23IlefsTer23) -
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA
+/. 1 c.67del r.(?) p.(D23Ifs*23) FA
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA
+/. 1 c.67del r.(?) p.(D23Ifs*23) FA
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA
+/. - c.67del r.(?) p.(Asp23IlefsTer23) -
?/. 1 c.67del r.(?) p.(D23Ifs*23) FA
+/. 1 c.67del r.(?) p.(D23Ifs*23) FA
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA
+/. 1 c.67del r.(?) p.(D23Ifs*23) FA
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA
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