All transcript variants in gene PSEN2

Information The variants shown are described using the NM_000447.2 transcript reference sequence.

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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.389C>T p.(Ser130Leu) missense_variant,NMD_transcript_variant - 3/11 possibly_damaging(0.794) r.(?) deleterious(0.03) subst g.227073271C>T - 5.140 - PSEN2_000001 rs63750197 - ; clinvar; 14623725;17186461 - - LOVD
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