All transcript variants in gene SZT2

Information The variants shown are described using the NM_015284.3 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.73C>T p.? stop_gained,NMD_transcript_variant - 2/6 - r.? - subst g.43868893C>T - 4.800 - SZT2_000002 rs397515489 - ; clinvar; 23932106 - - LOVD
+/+ c.2092C>T p.? stop_gained - 15/71 - r.? - subst g.43888824C>T - 4.080 - SZT2_000001 rs397515490 - ; clinvar; 23932106 - - LOVD
./. c.8655-2A>G - - - - - - - - g.43911563A>G - - - SZT2_000003 - - ; clinvar; - - - LOVD
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