Variant #0000513969 (NC_000002.11:g.204736171_204736172dup, CTLA4(NM_005214.4):c.528_529dup)

Chromosome 2
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.204736171_204736172dup
DNA change (hg38) g.203871448_203871449dup
Published as CTLA4(NM_005214.4):c.528_529dupTT (p.Y177Ffs*11)
ISCN -
DB-ID CTLA4_000006
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_Utrecht
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CTLA4 NM_005214.4 +?/. - c.528_529dup r.(?) p.(Tyr177PhefsTer11)