All transcript variants in gene PAX3

Information The variants shown are described using the NM_181461.3 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.47C>T - - - - - - - - g.223163288G>A - - - PAX3_000001 - - ; clinvar; - - - LOVD
./. c.807C>T - - - - - - - - g.223086092G>A - - - PAX3_000003 - - ; clinvar; - - - LOVD
./. c.1118C>T - - - - - - - - g.223084914G>A - - - PAX3_000002 - - ; clinvar; - - - LOVD
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