Variant #0000005607 (NC_000014.8:g.102452354C>T, DYNC1H1(NM_001376.4):c.1792C>T)

Individual ID 00005620
Chromosome 14
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.102452354C>T
Reference Peeters K et al. (2015)
DB-ID DYNC1H1_000001
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     
DYNC1H1 NM_001376.4 ./. 8 c.1792C>T r.(?) p.(Arg598Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005633 ? ? DYNC1H1 1 XY Liu