View all transcript variants in gene DES

Information The variants shown are described using the NM_001927.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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.38C>T p.(Ser13Phe) missense_variant - 1/9 unknown(0) r.(?) deleterious(0) subst g.220283222C>T - 5.120 - DES_000003 rs62636495 - ; clinvar; 18061454;19763525;19879535;17720647 - - LOVD
+/+ c.1353C>G p.(Ile451Met) missense_variant - 8/9 probably_damaging(0.957) r.(?) deleterious(0) subst g.220290449C>G - -7.380 - DES_000001 rs121913002 - ; clinvar; 10430757 - - LOVD
+/+ c.1353C>T p.(=) synonymous_variant - 8/9 - r.(=) - subst g.220290449C>T - -7.380 - DES_000002 rs121913002 - ; clinvar; 10430757 - - LOVD
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