Unique variants in gene EDN3

Information The variants shown are described using the NM_000114.2 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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.-268G>C - - - - - - - - g.57875600G>C - - - EDN3_000004 - - ; clinvar; - - - LOVD
./. 1 c.-248G>A - - - - - - - - g.57875620G>A - - - EDN3_000005 - - ; clinvar; - - - LOVD
./. 1 c.-77T>A - - - - - - - - g.57875791T>A - - - EDN3_000001 - - ; clinvar; - - - LOVD
./. 1 c.-44C>T - - - - - - - - g.57875824C>T - - - EDN3_000002 - - ; clinvar; - - - LOVD
./. 1 c.588+48C>T - - - - - - - - g.57897520C>T - - - EDN3_000003 - - ; clinvar; - - - LOVD
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