Transcript #00007726 (NM_004629.1, FANCG gene)

Transcript name Fanconi anemia, complementation group G
Gene name FANCG (Fanconi anemia, complementation group G)
Chromosome 9
Transcript - NCBI ID NM_004629.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_004620.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

318 entries on 4 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     
-?/. - c.55A>G r.(?) p.(Lys19Glu) -
+?/. 1 c.60T>A r.(?) p.(Asn20Lys) -
?/. 1 c.60T>A r.(?) p.(Asn20Lys) -
+/. 1 c.65G>C r.(?) p.(Arg22Pro) FA
+/. 1 c.65G>C r.(?) p.(Arg22Pro) FA
+/. 1 c.65G>C r.(?) p.(Arg22Pro) FA
+/. 1 c.65G>C r.(?) p.(Arg22Pro) FA
+/. 1 c.65G>C r.(?) p.(Arg22Pro) FA
+/. 1 c.65G>C r.(?) p.(Arg22Pro) FA
+/. 1 c.65G>C r.(?) p.(Arg22Pro) FA
+/. 1 c.65G>C r.(?) p.(Arg22Pro) FA
+?/. 1i c.84+3A>C r.spl p.? -
?/. 1i c.84+3A>C r.spl? p.? -
+/. 1i c.85-1G>A r.spl p.? FA
+/. 1i c.85-1G>A r.spl p.? FA
+?/. - c.109_110del r.(?) p.(Leu37Glufs*19) -
+/. 2 c.109_110del r.(?) p.(fs*) FA
+/. 2 c.109_110del r.(?) p.(fs*) FA
+/. 2 c.118C>T r.(?) p.(Gln40*) FA
+/. 2 c.156dup r.(?) p.(fs*) FA
+/. 2 c.156dup r.(?) p.(fs*) FA
+/. 2i c.175+1G>A r.spl p.? FA
+/. 2i c.175+1G>A r.spl p.? FA
?/. 3 c.179del r.(?) p.(fs) FA
+/. 3 c.212T>C r.(?) p.(Leu71Pro) FA
+/. 3 c.212T>C r.(?) p.(Leu71Pro) FA
+/. 3 c.219_220insT r.(?) p.(fs*) FA
+?/. - c.244dup p.T81fsX307 p.(Ala82GlyfsTer73) -
+/. 3 c.244dup r.(?) p.(fs*) FA
+/. 3 c.244dup r.(?) p.(fs*) FA
?/. 3 c.247del r.(?) p.(fs) FA
+/. 3 c.256C>T r.(?) p.(Gln86*) -
+/. 3 c.256C>T r.(?) p.(Gln86Ter) -
+/. 3 c.271_272del r.(?) p.(fs*) FA
+/. 3i c.307+1G>C r.spl p.? FA
+/. 3i c.307+1G>C r.spl p.? FA
+/. 3i c.307+1G>C r.spl p.? FA
+/. 3i c.307+1G>C r.spl p.? FA
+/. 3i c.307+1G>C r.spl p.? FA
+/. 3i c.307+1G>C r.spl p.? FA
+/. 3i c.307+1G>C r.spl p.? FA
+/. 3i c.307+1G>C r.spl p.? FA
+/. 3i c.307+1G>C r.spl p.? FA
+/. 3i c.307+1G>C r.spl p.? FA
+/. 3i c.307+1G>C r.spl p.? FA
+/. 3i c.307+1G>C r.spl p.? FA
+/. 3i c.307+1G>C r.spl p.? FA
+/. 3i c.307+1G>C r.spl p.? FA
+/. 3i c.307+1G>C r.spl p.? FA
+/. 3i c.307+1G>C r.spl p.? -
+/. 3i c.307+1G>C r.spl p.? FA
+/. 3i c.307+1G>C r.spl p.? FA
+/. 3i c.307+1G>C r.spl p.? FA
+/. 3i c.307+1G>C r.spl p.? FA
+/. 3i c.307+1G>C r.spl p.? FA
+/. 3i c.307+1G>C r.spl p.? FA
+/. 3i c.307+1G>C r.spl p.? FA
+/. 3i c.307+1G>C r.spl p.? FA
+/. 3i c.307+1G>C r.spl p.? FA
+/. 3i c.307+1G>C r.spl p.? FA
+/. 3i c.307+1G>C r.spl p.? FA
+/. 3i c.307+2del r.spl p.? FA
+/. 3i c.307+2del r.spl p.? FA
+/. 4 c.313G>T r.(?) p.(Glu105*) FA
+/. 4 c.313G>T r.(?) p.(Glu105*) FA
+/. 4 c.313G>T r.(?) p.(Glu105*) FA
+/. 4 c.313G>T r.(?) p.(Glu105*) FA
+/. 4 c.313G>T r.(?) p.(Glu105*) FA
+/. 4 c.313G>T r.(?) p.(Glu105*) FA
+/. 4 c.313G>T r.(?) p.(Glu105*) FA
+/. 4 c.313G>T r.(?) p.(Glu105*) FA
+/. 4 c.313G>T r.(?) p.(Glu105*) FA
+/. 4 c.346_347del r.(?) p.(fs*) FA
+/. - c.373_375dup r.(?) p.(Val125dup) -
-?/. - c.422G>A r.(?) p.(Arg141His) -
+/. 5 c.565G>T r.(?) p.(Glu189*) FA
+/. 5 c.565G>T r.(?) p.(Glu189*) FA
+/. 5 c.572T>G r.(?) p.(Leu191*) FA
+/. 5 c.572T>G r.(?) p.(Leu191*) FA
+/. 5 c.582_584delinsC r.(?) p.(fs*) FA
-?/. - c.615T>G r.(?) p.(Asp205Glu) -
+/. 5 c.620del r.(?) p.(fs*) FA
+/. 5 c.637_643del r.(?) p.(fs*) FA
+/. 5 c.637_643del r.(?) p.(fs*) FA
+/. 5 c.637_643del r.(?) p.(fs*) FA
+/. 5 c.637_643del r.(?) p.(fs*) FA
+/. 5 c.637_643del r.(?) p.(Tyr213Lysfs*6) -
?/. 5 c.637_643del r.(?) p.(fs*) FA
?/. 5 c.637_643del r.(?) p.(fs*) FA
?/. 5 c.637_643del r.(?) p.(fs*) FA
?/. 5 c.637_643del r.(?) p.(fs*) FA
+/. 5 c.637_643del r.(?) p.(fs*) FA
+/. 5 c.637_643del r.(?) p.(fs*) FA
+/. 5 c.637_643del r.(?) p.(fs*) FA
+/. 5 c.637_643del r.(?) p.(fs*) FA
+/. 5i c.646+1G>T r.spl p.(fs*) FA
+/. 5i c.646+1G>T r.spl p.? FA
+/. 5i c.646+1G>T r.spl p.? FA
+/. 6 c.652C>T r.(?) p.(Gln218*) FA
+/+ 6i c.778-1G>C r.spl p.? FA
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »