Transcript #00003242

Transcript name transcript variant Dp427m
Gene name DMD (dystrophin)
Chromosome X
Transcript - NCBI ID NM_004006.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_003997.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

30 entries on 1 page. Showing entries 1 - 30.
Legend  

Affects function     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
./. c.31+218C>T p.(=) - - - - r.(=) -
./. c.31+265A>T p.(=) - - - - r.(=) -
./. c.32-2A>T p.? - - - - r.spl? -
./. c.170T>C p.(Leu57Pro) - - - - r.(?) -
./. c.355C>T p.(Gln119*) - - - - r.(?) -
./. c.468A>C p.(=) - - - - r.(=) -
+/+ c.503C>A p.(Ala168Asp) missense_variant - 6/79 probably_damaging(0.997) r.(?) deleterious(0)
+/+ c.691T>A p.(Tyr231Asn) missense_variant - 8/79 probably_damaging(0.998) r.(?) deleterious(0)
+/+ c.835A>G p.(Thr279Ala) missense_variant - 9/79 possibly_damaging(0.764) r.(?) tolerated(0.08)
./. c.1594C>T p.(Gln532*) - - - - r.(?) -
./. c.2988A>G p.(=) - - - - r.(=) -
./. c.3217G>A p.(Glu1073Lys) - - - - r.(?) -
./. c.3238del p.(Asp1080Ilefs*5) - - - - r.(?) -
./. c.3413G>A p.(Trp1138*) - - - - r.(?) -
+/+ c.3631G>T p.(Glu1211*) stop_gained - 27/79 - r.(?) -
./. c.3841T>C p.(Trp1281Arg) - - - - r.(?) -
+/+ c.3940C>T p.(Arg1314*) stop_gained - 29/79 - r.(?) -
./. c.4309G>T p.(Ala1437Ser) - - - - r.(?) -
./. c.5587-10C>A p.(=) - - - - r.(=) -
./. c.5706C>A p.(Ser1902Arg) - - - - r.(?) -
./. c.6594G>A p.(=) - - - - r.(=) -
./. c.7873-7T>G p.(=) - - - - r.(=) -
-/- c.8762A>G p.(His2921Arg) missense_variant - 59/79 benign(0.402) r.(?) tolerated(0.59)
./. c.9204_9207del p.(Asn3068Lysfs*20) - - - - r.(?) -
./. c.9361+9T>C p.(=) - - - - r.(=) -
./. c.9929A>G p.(Gln3310Arg) - - - - r.(?) -
+/+ c.10262C>T p.(Ala3421Val) missense_variant,splice_region_variant - 71/79 possibly_damaging(0.695) r.(?) tolerated(0.11)
./. c.10447_10448del p.(Ser3483Profs*7) - - - - r.(?) -
./. c.10453_10454del p.(Leu3485Glufs*5) - - - - r.(?) -
./. c.10594_10595delinsTTTAAATGTAGGTGTAAGAAAACTTTAAAGAAACTTTAAAGTGGGG p.(Glu3532Phefs*13) - - - - r.(?) -
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