Transcript #00023815 (NM_001018113.1, FANCB gene)

Transcript name transcript variant 1
Gene name FANCB (Fanconi anemia, complementation group B)
Chromosome X
Transcript - NCBI ID NM_001018113.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001018123.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

81 entries on 1 page. Showing entries 1 - 81.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     
+/. _1_1i c.(?_-268)_(-192+1_-191-1)del r.0? p.0? FA
+/+ _1_10i c.(?_-268)_(*160_?)del r.0? p.0? FA
+?/. 1i_3i c.(-192+1_-191-1)_(951+1_952-1)dup r.? p.? FA
-?/. 2 c.-173G>C r.(=) p.(=) -
-?/. 2 c.-173G>C r.(=) p.(=) -
-?/. 2i c.-70-246C>T r.(=) p.(=) -
+/. 1 c.? r.(del) p.(del) FA
-?/. - c.7A>G r.(?) p.(Ser3Gly) -
-?/. - c.64G>A r.(?) p.(Val22Ile) -
-?/. - c.69T>C r.(?) p.(Leu23=) -
+/. 3 c.128T>C r.(?) p.(Leu37Ser) FA
+/. 3 c.195dup r.(?) p.(Thr66Tyrfs*25) FA
-?/. - c.262G>A r.(?) p.(Gly88Arg) -
-/. - c.402A>G r.(?) p.(Leu134=) -
+/. - c.515G>A r.(?) p.(Trp172Ter) -
?/. - c.688C>T r.(?) p.(Pro230Ser) -
?/. - c.706G>A r.(?) p.(Val236Met) -
+/. 3 c.755_767del r.(?) p.(Leu252Serfs*10) FA
+/. 3 c.829dup r.(?) p.(fs*) FA
+/. 3 c.829dup r.(?) p.(fs*) FA
+/. 3 c.949C>T r.(?) p.(Gln311*) FA
-?/. 3i c.951+129A>C r.(=) p.(=) -
+/. 4 c.986T>C r.(?) p.(Leu323Pro) FA
+/. 4 c.986T>C r.(?) p.(Leu323Pro) FA
-?/. - c.989T>C r.(?) p.(Ile330Thr) -
-?/. - c.989T>C r.(?) p.(Ile330Thr) -
?/. - c.1008T>A r.(?) p.(Ser336Arg) -
+/. 4 c.1103C>A r.(?) p.(Ser362*) FA
+?/. - c.1104+2T>C r.spl? p.? -
-?/. - c.1105-6_1105-3dup r.spl? p.? -
?/. - c.1140T>A r.(?) p.(Phe380Leu) -
-?/. - c.1140T>A r.(?) p.(Phe380Leu) -
-?/. - c.1179T>C r.(?) p.(Pro393=) -
-/. - c.1327-10T>C r.(=) p.(=) -
-?/. 6i c.1327-10T>C r.(=) p.(=) -
-?/. 6i c.1327-10T>C r.(=) p.(=) -
+/. - c.1405C>T r.(?) p.(Gln469Ter) -
-/. - c.1494G>T r.(?) p.(Lys498Asn) -
-/. - c.1494G>T r.(?) p.(Lys498Asn) -
+/. 7i c.1496+5G>A r.1327_1496del p.fs* FA
+/+ 7i_10_ c.(1496+1_1497-1)_(*160_?)del r.(del) p.(del) FA
?/. - c.1577G>A r.(?) p.(Arg526Lys) -
?/. - c.1637G>T r.(?) p.(Gly546Val) -
+/. 8 c.1668del r.(?) p.(fs*) FA
+/. 8 c.1668del r.(?) p.(fs*) FA
+/. - c.1668dup r.(?) p.(Asp557Ter) -
-?/. - c.1674C>A r.(?) p.(Ser558Arg) -
-?/. - c.1720T>A r.(?) p.(Cys574Ser) -
?/. - c.1765A>G r.(?) p.(Thr589Ala) -
-/. - c.1769T>C r.(?) p.(Phe590Ser) -
-?/. - c.1769T>C r.(?) p.(Phe590Ser) -
+/. 8 c.1811_1814del r.(?) p.(Arg604Lysfs*18) FA
+/. 8 c.1856_1857insT r.(?) p.(Arg619Serfs*39) FA
+/+ 8 c.1857_1858del r.(?) p.(Arg619Serfs*38) FA
+/+ 8 c.1857_1858del r.(?) p.(Arg619Serfs*38) FA
-?/. - c.1996G>A r.(?) p.(Gly666Ser) -
-/. - c.1996G>A r.(?) p.(Gly666Ser) -
?/. 9 c.2027T>C r.(?) p.(L676P) FA
?/. 9 c.2059G>T r.(?) p.(E687*) FA
-?/. - c.2090C>T r.(?) p.(Pro697Leu) -
?/. - c.2090C>T r.(?) p.(Pro697Leu) -
-?/. - c.2117C>T r.(?) p.(Thr706Ile) -
+/+ 9 c.2150T>G r.(?) p.(Leu717*) FA
+/+ 9i c.2165+1G>T r.spl p.? FA
+/+ 9i c.2165+1G>T r.spl p.? FA
-?/. 9i c.2166-186T>C r.(=) p.(=) -
-?/. 9i c.2166-186T>C r.(=) p.(=) -
-?/. 9i c.2166-176A>G r.(=) p.(=) -
-?/. 9i c.2166-176A>G r.(=) p.(=) -
+/. 10 c.2172_2175del r.(?) p.(Thr725Leufs*15) FA
+/. 10 c.2172_2175del r.(?) p.(Thr725Leufs*15) FA
?/. 10 c.2249G>T r.(?) p.(Gly744Val) FA
+/. 10 c.2249_2252del r.(?) p.(Gly750Valfs*5) FA
-?/. - c.2327C>T r.(?) p.(Ala776Val) -
-?/. - c.2327C>T r.(?) p.(Ala776Val) -
-?/. - c.2395G>A r.(?) p.(Ala799Thr) -
-?/. - c.2411A>G r.(?) p.(Asp804Gly) -
-?/. - c.2435A>G r.(?) p.(Tyr812Cys) -
?/. - c.2438G>T r.(?) p.(Arg813Ile) -
-?/. - c.2452A>G r.(?) p.(Arg818Gly) -
?/. - c.2477C>T r.(?) p.(Thr826Met) -
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