Variant #0000001639 (NC_000002.12:g.203878370A>G, NM_005214.4:c.*5558A>G (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.203878370A>G
Published as 6230A/G
Reference Kek-Heng Chua et al. (2010)
DB-ID CTLA4_000005 See all 2 reported entries
dbSNP ID -
Frequency 100/130
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 13:00:00 +08:00 (CST)
Date last edited 2021-07-25 13:05:41 +08:00 (CST)
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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.*5558A>G - r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000369 DNA PCR CTLA4 8 Nuur Athirah Binti Mohd Daud