Variant #0000000350 (NC_000002.11:g.74590464C>T, DCTN1(NM_004082.4):c.3302G>A)

Individual ID 00000350
Chromosome 2
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.74590464C>T
Reference Münch C1, Rosenbohm A, Sperfeld AD, Uttner I, Reske S, Krause BJ, Sedlmeier R, Meyer T, Hanemann CO, Stumm G, Ludolph AC.(2005)
DB-ID DCTN1_000002
Frequency -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
DCTN1 NM_004082.4 ./. 28 c.3302G>A r.(?) p.(Arg1101Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000350 ? ? DCTN1 1 Y Yang