View all transcript variants in gene NEXN

Information The variants shown are described using the NM_144573.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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.1831C>A p.(Pro611Thr) missense_variant - 13/13 probably_damaging(0.994) r.(?) deleterious(0) subst g.78408317C>A - 5.840 - NEXN_000002 rs137853198 - ; clinvar; 19881492 - - LOVD
+/+ c.1955A>G p.(Tyr652Cys) missense_variant - 13/13 probably_damaging(1) r.(?) deleterious(0) subst g.78408441A>G - 5.840 - NEXN_000001 rs137853197 - ; clinvar; 20970104;19881492 - - LOVD
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