View unique variants in gene TSEN2

Information The variants shown are described using the NM_025265.3 transcript reference sequence.

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Effect     

Reported     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Chr     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Variant_disease     

Owner     
+/+ 1 c.926A>G p.(Tyr309Cys) missense_variant - 7/12 probably_damaging(1) r.(?) deleterious(0) 3 Unknown subst g.12558126A>G - 5.630 - TSEN2_000001 MSCV_0003015 rs113994149 - ; clinvar; 18711368;20301773;20952379 - - - -
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