Variant #0000405110 (NC_000002.11:g.204732714A>G, CTLA4(NM_005214.4):c.49A>G)

Individual ID 00180477
Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.204732714A>G
DNA change (hg38) g.203867991A>G
Published as -
ISCN -
DB-ID CTLA4_000001 See all 3 reported entries
Variant remarks for details see the Uveogene database
Reference PubMed: Houman 2009
ClinVar ID -
dbSNP ID rs231775
Origin Germline
Segregation -
Frequency 77/270 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.415 View details
Owner Peizeng Yang
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CTLA4 NM_005214.4 ./. - c.49A>G r.(?) p.(Thr17Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000181414 DNA arraySNP Blood - CTLA4 1 Peizeng Yang