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 |

Variant on transcripts
Screenings
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