Full data view for 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.
Legend  

Effect     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Date     

Template     

Technique     

Tissue     

Description     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Consanguinity     

Age of death     

Cause of death     

Remarks     

Panel size     

Owner     
+/+ c.503C>A p.(Ala168Asp) missense_variant - 6/79 probably_damaging(0.997) r.(?) deleterious(0) Unknown subst g.32834612G>T - 5.510 - DMD_000002 rs128626236 - ; clinvar; 7951253 - - - - - - - - - - - - - - - - - - -
+/+ c.691T>A p.(Tyr231Asn) missense_variant - 8/79 probably_damaging(0.998) r.(?) deleterious(0) Unknown subst g.32717369A>T - 5.570 - DMD_000001 rs128626237 - ; clinvar; 7951253 - - - - - - - - - - - - - - - - - - -
+/+ c.835A>G p.(Thr279Ala) missense_variant - 9/79 possibly_damaging(0.764) r.(?) tolerated(0.08) Unknown subst g.32716112T>C - 5.630 - DMD_000006 rs128627255 - ; clinvar; 9170407 - - - - - - - - - - - - - - - - - - -
+/+ c.3631G>T p.(Glu1211*) stop_gained - 27/79 - r.(?) - Unknown subst g.32466728C>A - 4.660 - DMD_000004 rs267606771 - ; clinvar; 9410897 - - - - - - - - - - - - - - - - - - -
+/+ c.3940C>T p.(Arg1314*) stop_gained - 29/79 - r.(?) - Unknown subst g.32456489G>A - 5.820 - DMD_000007 rs5030730 - ; clinvar; 11039581 - - - - - - - - - - - - - - - - - - -
-/- c.8762A>G p.(His2921Arg) missense_variant - 59/79 benign(0.402) r.(?) tolerated(0.59) Unknown subst g.31496398T>C - 2.920 - DMD_000005 rs1800279 - ; clinvar; 25333069;7881286;23757202 - - - - - - - - - - - - - - - - - - -
+/+ c.10262C>T p.(Ala3421Val) missense_variant,splice_region_variant - 71/79 possibly_damaging(0.695) r.(?) tolerated(0.11) Unknown subst g.31196049G>A - 4.930 - DMD_000003 rs104894791 - ; clinvar; 8301652 - - - - - - - - - - - - - - - - - - -
Legend