Variant #0000002920 (NC_000002.12:g.203867991A>G, CTLA4(NM_005214.4):c.49A>G)

Individual ID 00000713
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

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RNA change     

Protein     

GVS function     

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



Screenings


AscendingScreening ID     

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Genes screened     

Variants found     

Owner     
0000000798 DNA PCR;SEQ CTLA4 1 Nur Aisyah Athirah