Variant #0000006618 (NC_000002.11:g.74605231C>G, DCTN1(NM_004082.4):c.175G>C)

Individual ID 00006624
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.74605231C>G
Reference Ji He, et al. (2022)
DB-ID DCTN1_000011
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
DCTN1 NM_004082.4 +/. 2 c.175G>C r.(?) p.(Gly59Arg) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006648 ? ? DCTN1 1 XY Liu