Variant #0000001636 (NC_000002.12:g.203867991A>G, NM_005214.4:c.49A>G (CTLA4))

Individual ID 00000355
Chromosome 2
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.203867991A>G
Published as 49A/G
Reference Kek-Heng Chua et al. (2010), dbSNP, ClinVar
DB-ID CTLA4_000004 See all 5 reported entries
dbSNP ID rs231775
Frequency 69/130
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 12:54:50 +08:00 (CST)
Date last edited 2021-09-02 09:47:39 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

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GVS function     

Clinical classification     
CTLA4 NM_005214.4 -/. 1 c.49A>G - r.(?) p.(Thr17Ala) - ClinVar



Screenings


AscendingScreening ID     

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Genes screened     

Variants found     

Owner     
0000000369 DNA PCR CTLA4 8 Nuur Athirah Binti Mohd Daud