Variant #0000248920 (NC_000002.11:g.204732714A>G, CTLA4(NM_005214.4):c.49A>G)

Chromosome 2
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.204732714A>G
DNA change (hg38) g.203867991A>G
Published as CTLA4(NM_005214.5):c.49A>G (p.T17A)
ISCN -
DB-ID CTLA4_000001 See all 3 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.415 View details
Owner VKGL-NL_Groningen
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)