View unique variants in gene DMD

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

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Reported     

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     
+/+ 1 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
+/+ 1 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
+/+ 1 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
+/+ 1 c.3631G>T p.(Glu1211*) stop_gained - 27/79 - r.(?) - subst g.32466728C>A - 4.660 - DMD_000004 rs267606771 - ; clinvar; 9410897 - - LOVD
+/+ 1 c.3940C>T p.(Arg1314*) stop_gained - 29/79 - r.(?) - subst g.32456489G>A - 5.820 - DMD_000007 rs5030730 - ; clinvar; 11039581 - - LOVD
-/- 1 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
+/+ 1 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
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