Variant #0000005892 (NC_000003.11:g.4562721C>T, ITPR1(NM_001099952.2):c.106C>T)

Individual ID 00005906
Chromosome 3
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.4562721C>T
Reference Casey JP et al. (2017)
DB-ID ITPR1_000002
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     
ITPR1 NM_001099952.2 ./. 4 c.106C>T r.(?) p.(Arg36Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005923 ? ? ITPR1 1 XY Liu