Variant #0000513968 (NC_000002.11:g.204735408G>A, CTLA4(NM_005214.4):c.209G>A)

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.204735408G>A
DNA change (hg38) g.203870685G>A
Published as -
ISCN -
DB-ID CTLA4_000005
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Nijmegen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CTLA4 NM_005214.4 ?/. - c.209G>A r.(?) p.(Arg70Gln)