Variant #0000002907 (NC_000012.12:g.11423G>A, CD27(NM_001242.5):c.698A>G)

Individual ID 00000714
Chromosome 12
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.11423G>A
Published as -
Reference Adiratna Mat Ripen et al.(2020)
DB-ID CD27_000001 See all 2 reported entries
dbSNP ID rs2532502
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
CD27 NM_001242.5 -/. 6 c.698A>G - r.(?) p.(His233Arg) Benign



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000789 DNA PCR;SEQ CD27 1 Nur Aisyah Athirah