Unique variants in gene NMNAT1

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

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

Reported     

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     
?/? 1 c.25G>A p.? missense_variant - 2/5 probably_damaging(0.928) r.? deleterious(0) subst g.10032156G>A - 2.990 - NMNAT1_000008 - - ; - - - LOVD
+?/+? 1 c.37G>A p.? missense_variant - 2/5 probably_damaging(1) r.? deleterious(0) subst g.10032168G>A - 3.920 - NMNAT1_000009 rs138613460 - ; ensembl; - - - LOVD
?/? 1 c.451G>T p.? missense_variant - 5/5 possibly_damaging(0.879) r.? deleterious(0.01) subst g.10042370G>T - 2.040 - NMNAT1_000007 - - ; - - - LOVD
?/? 1 c.457C>G p.(Leu153Val) missense_variant - 5/5 probably_damaging(0.999) r.(?) deleterious(0) subst g.10042376C>G - -6.280 - NMNAT1_000005 - - ; - - - LOVD
+/+ 1 c.619C>T p.(Arg207Trp) missense_variant - 5/5 benign(0.025) r.(?) tolerated(0.07) subst g.10042538C>T - 2.950 - NMNAT1_000006 rs142968179 - ; clinvar; ensembl; 22842229;22842230 - - LOVD
?/? 1 c.710G>T p.(Arg237Leu) missense_variant - 5/5 possibly_damaging(0.758) r.(?) deleterious(0) subst g.10042629G>T - 3.100 - NMNAT1_000001 - - ; - - - LOVD
+/+ 1 c.769G>A p.(Glu257Lys) missense_variant - 5/5 benign(0.037) r.(?) tolerated(0.24) subst g.10042688G>A - 5.010 - NMNAT1_000002 rs150726175 - ; clinvar; ensembl; 22842231;22842229;20301475;22842227;22842230 - - LOVD
?/? 1 c.817A>G p.(Asn273Asp) missense_variant - 5/5 benign(0.193) r.(?) tolerated(0.12) subst g.10042736A>G - 3.790 - NMNAT1_000003 - - ; - - - LOVD
?/? 1 c.838T>C p.? stop_lost - 5/5 - r.? - subst g.10042757T>C - -0.802 - NMNAT1_000004 - - ; - - - LOVD
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