Variant #0000005135 (NC_000018.9:g.77246406T>G, NFATC1(NM_006162.4):c.2251T>G)

Individual ID 00005141
Chromosome 18
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.77246406T>G
Reference VĂ©lez JI et al. (2016)dbSNP
DB-ID NFATC1_000001
Frequency -
Average frequency (gnomAD v.2.1.1) 0.42495 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     
NFATC1 NM_006162.4 ./. 9 c.2251T>G r.(?) p.(Cys751Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005144 ? ? NFATC1 1 XY Liu