All transcript variants in gene DMD

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

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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.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
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