Unique variants in gene EDNRB

Information The variants shown are described using the NM_000115.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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.548C>G - - - - - - - - g.78477678G>C - - - EDNRB_000002 - - ; clinvar; - - - LOVD
./. 1 c.828G>T - - - - - - - - g.78475316C>A - - - EDNRB_000001 - - ; clinvar; - - - LOVD
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