Variant #0000005438 (NC_000003.11:g.123044168C>T, ADCY5(NM_183357.2):c.2088+1G>A)

Individual ID 00005443
Chromosome 3
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.123044168C>T
Reference Carapito R et al. (2015)
DB-ID ADCY5_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     
ADCY5 NM_183357.2 ./. 8i c.2088+1G>A r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005454 ? ? ADCY5 1 XY Liu