Variant #0000005146 (NC_000010.10:g.75071618G>A, CFAP70(NM_145170.3):c.1348C>T)

Individual ID 00005152
Chromosome 10
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.75071618G>A
Reference VĂ©lez JI et al. (2016)dbSNP
DB-ID CFAP70_000001
Frequency -
Average frequency (gnomAD v.2.1.1) 0.01403 View details
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     
CFAP70 NM_145170.3 ./. 12 c.1348C>T r.(?) p.(Pro450Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005155 ? ? CFAP70 1 XY Liu