Variant #0000002921 (NC_000002.12:g.203867991A>G, NM_005214.4:c.49A>G (CTLA4))

Individual ID 00000714
Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.203867991A>G
Published as -
Reference Adiratna Mat Ripen et al.(2020)
DB-ID CTLA4_000004 See all 5 reported entries
dbSNP ID rs231775
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
Date created 2021-06-27 12:24:43 +08:00 (CST)
Date last edited 2021-08-01 13:12:08 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

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



Screenings


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Owner     
0000000802 DNA PCR;SEQ CTLA4 1 Nur Aisyah Athirah