Variant #0000001633 (NC_000002.12:g.203866221T>C, NM_005214.4:c.-1722T>C (CTLA4))

Individual ID 00000355
Chromosome 2
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.203866221T>C
Published as –1722T/C
Reference Kek-Heng Chua et al. (2010), dbSNP
DB-ID CTLA4_000001 See all 3 reported entries
dbSNP ID rs733618
Frequency 11/130
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2021-01-17 12:38:34 +08:00 (CST)
Date last edited 2021-09-02 09:43:00 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
CTLA4 NM_005214.4 +/. - c.-1722T>C - r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000369 DNA PCR CTLA4 8 Nuur Athirah Binti Mohd Daud