Full data view for gene NMNAT1

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

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

Effect     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Date     

Template     

Technique     

Tissue     

Description     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Consanguinity     

Age of death     

Cause of death     

Remarks     

Panel size     

Owner     
?/? c.25G>A p.? missense_variant - 2/5 probably_damaging(0.928) r.? deleterious(0) Unknown subst g.10032156G>A - 2.990 - NMNAT1_000008 MSCV_0010001 - - ; - - - - - - - - - - - - - - - - - - - -
+?/+? c.37G>A p.? missense_variant - 2/5 probably_damaging(1) r.? deleterious(0) Unknown subst g.10032168G>A - 3.920 - NMNAT1_000009 MSCV_0001576 rs138613460 - ; ensembl; - - - - - - - - - - - - - - - - - - - -
?/? c.451G>T p.? missense_variant - 5/5 possibly_damaging(0.879) r.? deleterious(0.01) Unknown subst g.10042370G>T - 2.040 - NMNAT1_000007 MSCV_0010002 - - ; - - - - - - - - - - - - - - - - - - - -
?/? c.457C>G p.(Leu153Val) missense_variant - 5/5 probably_damaging(0.999) r.(?) deleterious(0) Unknown subst g.10042376C>G - -6.280 - NMNAT1_000005 MSCV_0010003 - - ; - - - - - - - - - - - - - - - - - - - -
+/+ c.619C>T p.(Arg207Trp) missense_variant - 5/5 benign(0.025) r.(?) tolerated(0.07) Unknown subst g.10042538C>T - 2.950 - NMNAT1_000006 MSCV_0010004 rs142968179 - ; clinvar; ensembl; 22842229;22842230 - - - - - - - - - - - - - - - - - - -
?/? c.710G>T p.(Arg237Leu) missense_variant - 5/5 possibly_damaging(0.758) r.(?) deleterious(0) Unknown subst g.10042629G>T - 3.100 - NMNAT1_000001 MSCV_0010005 - - ; - - - - - - - - - - - - - - - - - - - -
+/+ c.769G>A p.(Glu257Lys) missense_variant - 5/5 benign(0.037) r.(?) tolerated(0.24) Unknown subst g.10042688G>A - 5.010 - NMNAT1_000002 MSCV_0010006 rs150726175 - ; clinvar; ensembl; 22842231;22842229;20301475;22842227;22842230 - - - - - - - - - - - - - - - - - - -
?/? c.817A>G p.(Asn273Asp) missense_variant - 5/5 benign(0.193) r.(?) tolerated(0.12) Unknown subst g.10042736A>G - 3.790 - NMNAT1_000003 MSCV_0010007 - - ; - - - - - - - - - - - - - - - - - - - -
?/? c.838T>C p.? stop_lost - 5/5 - r.? - Unknown subst g.10042757T>C - -0.802 - NMNAT1_000004 MSCV_0010008 - - ; - - - - - - - - - - - - - - - - - - - -
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