All transcript variants in gene DMD

Information The variants shown are described using the NM_004006.2 transcript reference sequence.

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

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
./. c.31+218C>T p.(=) - - - - r.(=) - - g.33229181G>A - - - DMD_000028 - - ; clinvar; - - - LOVD
./. c.31+265A>T p.(=) - - - - r.(=) - - g.33229134T>A - - - DMD_000027 - - ; clinvar; - - - LOVD
./. c.32-2A>T p.? - - - - r.spl? - - g.33038319T>A - - - DMD_000020 - - ; clinvar; - - - LOVD
./. c.170T>C p.(Leu57Pro) - - - - r.(?) - - g.32867861A>G - - - DMD_000019 - - ; clinvar; - - - LOVD
./. c.355C>T p.(Gln119*) - - - - r.(?) - - g.32841414G>A - - - DMD_000018 - - ; clinvar; - - - LOVD
./. c.468A>C p.(=) - - - - r.(=) - - g.32834647T>G - - - DMD_000024 - - ; clinvar; - - - LOVD
+/+ c.503C>A p.(Ala168Asp) missense_variant - 6/79 probably_damaging(0.997) r.(?) deleterious(0) subst g.32834612G>T - 5.510 - DMD_000002 rs128626236 - ; clinvar; 7951253 - - LOVD
+/+ c.691T>A p.(Tyr231Asn) missense_variant - 8/79 probably_damaging(0.998) r.(?) deleterious(0) subst g.32717369A>T - 5.570 - DMD_000001 rs128626237 - ; clinvar; 7951253 - - LOVD
+/+ c.835A>G p.(Thr279Ala) missense_variant - 9/79 possibly_damaging(0.764) r.(?) tolerated(0.08) subst g.32716112T>C - 5.630 - DMD_000006 rs128627255 - ; clinvar; 9170407 - - LOVD
./. c.1594C>T p.(Gln532*) - - - - r.(?) - - g.32613882G>A - - - DMD_000017 - - ; clinvar; - - - LOVD
./. c.2988A>G p.(=) - - - - r.(=) - - g.32486789T>C - - - DMD_000012 - - ; clinvar; - - - LOVD
./. c.3217G>A p.(Glu1073Lys) - - - - r.(?) - - g.32482762C>T - - - DMD_000011 - - ; clinvar; - - - LOVD
./. c.3238del p.(Asp1080Ilefs*5) - - - - r.(?) - - g.32482741del - - - DMD_000016 - - ; clinvar; - - - LOVD
./. c.3413G>A p.(Trp1138*) - - - - r.(?) - - g.32481575C>T - - - DMD_000026 - - ; clinvar; - - - LOVD
+/+ c.3631G>T p.(Glu1211*) stop_gained - 27/79 - r.(?) - subst g.32466728C>A - 4.660 - DMD_000004 rs267606771 - ; clinvar; 9410897 - - LOVD
./. c.3841T>C p.(Trp1281Arg) - - - - r.(?) - - g.32459377A>G - - - DMD_000015 - - ; clinvar; - - - LOVD
+/+ c.3940C>T p.(Arg1314*) stop_gained - 29/79 - r.(?) - subst g.32456489G>A - 5.820 - DMD_000007 rs5030730 - ; clinvar; 11039581 - - LOVD
./. c.4309G>T p.(Ala1437Ser) - - - - r.(?) - - g.32408223C>A - - - DMD_000014 - - ; clinvar; - - - LOVD
./. c.5587-10C>A p.(=) - - - - r.(=) - - g.32361413G>T - - - DMD_000013 - - ; clinvar; - - - LOVD
./. c.5706C>A p.(Ser1902Arg) - - - - r.(?) - - g.32361284G>T - - - DMD_000022 - - ; clinvar; - - - LOVD
./. c.6594G>A p.(=) - - - - r.(=) - - g.31986476C>T - - - DMD_000030 - - ; clinvar; - - - LOVD
./. c.7873-7T>G p.(=) - - - - r.(=) - - g.31676268A>C - - - DMD_000029 - - ; clinvar; - - - LOVD
-/- c.8762A>G p.(His2921Arg) missense_variant - 59/79 benign(0.402) r.(?) tolerated(0.59) subst g.31496398T>C - 2.920 - DMD_000005 rs1800279 - ; clinvar; 25333069;7881286;23757202 - - LOVD
./. c.9204_9207del p.(Asn3068Lysfs*20) - - - - r.(?) - - g.31341732_31341735del - - - DMD_000025 - - ; clinvar; - - - LOVD
./. c.9361+9T>C p.(=) - - - - r.(=) - - g.31241155A>G - - - DMD_000010 - - ; clinvar; - - - LOVD
./. c.9929A>G p.(Gln3310Arg) - - - - r.(?) - - g.31200900T>C - - - DMD_000009 - - ; clinvar; - - - LOVD
+/+ c.10262C>T p.(Ala3421Val) missense_variant,splice_region_variant - 71/79 possibly_damaging(0.695) r.(?) tolerated(0.11) subst g.31196049G>A - 4.930 - DMD_000003 rs104894791 - ; clinvar; 8301652 - - LOVD
./. c.10447_10448del p.(Ser3483Profs*7) - - - - r.(?) - - g.31187665_31187666del - - - DMD_000008 - - ; clinvar; - - - LOVD
./. c.10453_10454del p.(Leu3485Glufs*5) - - - - r.(?) - - g.31187659_31187660del - - - DMD_000021 - - ; clinvar; - - - LOVD
./. c.10594_10595delinsTTTAAATGTAGGTGTAAGAAAACTTTAAAGAAACTTTAAAGTGGGG p.(Glu3532Phefs*13) - - - - r.(?) - - g.31165594_31165595delinsCCCCACTTTAAAGTTTCTTTAAAGTTTTCTTACACCTACATTTAAA - - - DMD_000023 - - ; clinvar; - - - LOVD
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