Variant #0000000349 (NC_000002.11:g.74588717G>A, DCTN1(NM_004082.4):c.3746C>T)

Individual ID 00000349
Chromosome 2
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.74588717G>A
Reference Münch C1, Sedlmeier R, Meyer T, Homberg V, Sperfeld AD, Kurt A, Prudlo J, Peraus G, Hanemann CO, Stumm G, Ludolph AC.(2004)
DB-ID DCTN1_000001
Frequency -
Average frequency (gnomAD v.2.1.1) 0.0029 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 ./. 32 c.3746C>T r.(?) p.(Thr1249Ile) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000349 ? ? DCTN1 1 Y Yang