chr2:204732714:A>G Detail (hg19) (CTLA4)

Information

Genome

Assembly Position
hg19 chr2:204,732,714-204,732,714
hg38 chr2:203,867,991-203,867,991 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001037631.2:c.49A>G NP_001032720.1:p.Thr17Ala
Ensemble ENST00000295854.10:c.49A>G ENST00000295854.10:p.Thr17Ala
ENST00000487393.1:c.49A>G ENST00000487393.1:p.Thr17Ala
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.604
ToMMo:0.621
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.669

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 123890 OMIM
HGNC 2505 HGNC
Ensembl ENSG00000163599 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv10206433 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2005-04-01 no assertion criteria provided Hashimoto thyroiditis, susceptibility to germline Detail
risk factor 2005-04-01 no assertion criteria provided Thyroid-associated orbitopathy, susceptibility to germline Detail
risk factor 2005-04-01 no assertion criteria provided Systemic lupus erythematosus, susceptibility to germline Detail
risk factor 2005-04-01 no assertion criteria provided Celiac disease, susceptibility to, 3 germline Detail
Benign 2016-03-29 criteria provided, single submitter not specified germline Detail
risk factor 2005-04-01 no assertion criteria provided TYPE 1 DIABETES MELLITUS 12, SUSCEPTIBILITY TO germline Detail
Benign 2024-02-01 criteria provided, single submitter Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency germline Detail
Benign 2018-11-10 criteria provided, single submitter not provided germline unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.064 Autoimmune Diseases Association of GV with CTLA4 (rs12992492, P=5.9E-05, OR=1.20; meta-P for rs23177... BeFree 21085187 Detail
<0.001 Generalized vitiligo Association of GV with CTLA4 (rs12992492, P=5.9E-05, OR=1.20; meta-P for rs23177... BeFree 21085187 Detail
0.055 asthma To investigate associations between total serum immunoglobulin E (IgE) levels an... BeFree 22376040 Detail
0.038 asthma To investigate associations between total serum immunoglobulin E (IgE) levels an... BeFree 22376040 Detail
0.266 asthma To investigate associations between total serum immunoglobulin E (IgE) levels an... BeFree 22376040 Detail
0.275 Diabetes Mellitus, Insulin-Dependent Our data indicate that CTLA-4 exon 1 position 49 A/G dimorphism was significantl... BeFree 9690057 Detail
0.064 Autoimmune Diseases Six autoimmune disease-related risk alleles of CTLA4 (rs1863800, rs733618, rs455... BeFree 25003519 Detail
0.005 thymoma A predisposing effect of rs1863800*C, rs733618*C, and rs231775*G of CTLA4 gene t... BeFree 25003519 Detail
0.248 Diabetes Mellitus, Insulin-Dependent CTLA-4 49 A/G dimorphism and type 1 diabetes susceptibility: a French case-contr... BeFree 12047362 Detail
0.248 Diabetes Mellitus, Insulin-Dependent Association of the CTLA-4 gene 49 A/G polymorphism with type 1 diabetes and auto... BeFree 12610047 Detail
0.345 rheumatoid arthritis CTLA4 exon1 A49G polymorphism in Slovak patients with rheumatoid arthritis and H... BeFree 21503616 Detail
0.002 osteosarcoma The current study evaluated the association of four CTLA-4 gene mutations, -1661... BeFree 21612409 Detail
0.248 Diabetes Mellitus, Insulin-Dependent Association of CTLA-4 gene 49A/G polymorphism with the incidence of type 1 diabe... BeFree 24517008 Detail
<0.001 Uveomeningoencephalitic Syndrome In this study, we investigated the association of CTLA-4 gene polymorphisms (- 1... BeFree 18282809 Detail
0.016 Autoimmune thyroid disease 49A/G and CT60 polymorphisms of the cytotoxic T-lymphocyte-associated antigen 4 ... BeFree 19559744 Detail
<0.001 Juvenile arthritis Families of 531 children with JIA were genotyped for SNPs located in the promote... BeFree 18576317 Detail
<0.001 Mucocutaneous Lymph Node Syndrome CTLA-4, position 49 A/G polymorphism associated with coronary artery lesions in ... BeFree 21082224 Detail
0.019 Behcet Syndrome The role of CTLA-4 exon-1 49 A/G polymorphism and soluble CTLA-4 protein level i... BeFree 24991555 Detail
0.248 Diabetes Mellitus, Insulin-Dependent Association between IL-18 gene promoter polymorphisms and CTLA-4 gene 49A/G poly... BeFree 14709415 Detail
0.016 Autoimmune thyroid disease Association of the CTLA-4 gene 49 A/G polymorphism with type 1 diabetes and auto... BeFree 12610047 Detail
0.016 Autoimmune thyroid disease CTLA-4 and autoimmune thyroid disease: lack of influence of the A49G signal pept... BeFree 12202150 Detail
0.019 Behcet Syndrome CTLA-4 gene 49A/G polymorphism in Turkish patients with Behçet's disease. BeFree 16045690 Detail
0.068 Lupus Erythematosus, Systemic [The genetic contribution towards predicting early-onset disease in patients wit... GAD 20881011 Detail
0.248 Diabetes Mellitus, Insulin-Dependent The influence of polymorphisms of INS(-23Hph1), CTLA-4(T17A), and PTPN22(R620W) ... BeFree 19188433 Detail
0.149 Hashimoto Disease CTLA4 exon1 A49G polymorphism in Slovak patients with rheumatoid arthritis and H... BeFree 21503616 Detail
0.120 CELIAC DISEASE, SUSCEPTIBILITY TO, 3 (finding) NA CLINVAR Detail
0.002 Disorder of eye We investigated the distribution of CTLA-4 A49G polymorphism in 264 Caucasian pa... BeFree 12534352 Detail
0.475 Diabetes Mellitus, Insulin-Dependent Association of PTPN22 C1858T and CTLA-4 A49G polymorphisms with Type 1 Diabetes ... BeFree 19815302 Detail
0.025 Diabetes Mellitus, Insulin-Dependent Association between IL-18 gene promoter polymorphisms and CTLA-4 gene 49A/G poly... BeFree 14709415 Detail
0.064 Autoimmune Diseases The cytotoxic T lymphocyte-associated antigen (CTLA)-4 molecule plays an importa... BeFree 16045690 Detail
0.371 Diabetes Mellitus, Insulin-Dependent The influence of polymorphisms of INS(-23Hph1), CTLA-4(T17A), and PTPN22(R620W) ... BeFree 19188433 Detail
0.064 Autoimmune Diseases Gene polymorphisms involving CTLA-4 promoter (-318 C/T), exon 1 (49 A/G), and ex... BeFree 12225635 Detail
0.248 Diabetes Mellitus, Insulin-Dependent This meta-analysis demonstrated that the G allele of rs231775 of CTLA-4 is a ris... BeFree 23261825 Detail
0.248 Diabetes Mellitus, Insulin-Dependent Association of PTPN22 C1858T and CTLA-4 A49G polymorphisms with Type 1 Diabetes ... BeFree 19815302 Detail
0.009 Malignant neoplasm of breast The ctla-4 49A/G polymorphism was studied in 197 women with primary breast cance... BeFree 15218356 Detail
0.001 Osteosarcoma of bone The current study evaluated the association of four CTLA-4 gene mutations, -1661... BeFree 21612409 Detail
0.003 thyroiditis Updated analysis of studies on the cytotoxic T-lymphocyte-associated antigen-4 g... BeFree 23661465 Detail
0.228 Graves Disease The CTLA-4 49 A/G polymorphism was detected by the PCR-restriction fragment-leng... BeFree 12610047 Detail
<0.001 juvenile rheumatoid arthritis Families of 531 children with JIA were genotyped for SNPs located in the promote... BeFree 18576317 Detail
0.228 Graves Disease Particularly, association of three polymorphic markers of CTLA4 gene, namely, C(... BeFree 18752454 Detail
0.248 Diabetes Mellitus, Insulin-Dependent This meta-analysis demonstrated that the G49A and C60T polymorphism of CTLA4 is ... BeFree 24465825 Detail
0.019 Behcet Syndrome We analysed the SNPs -318C/T and 49A/G in CTLA-4 in patients with Behcet's disea... BeFree 18498289 Detail
0.002 breast carcinoma The ctla-4 49A/G polymorphism was studied in 197 women with primary breast cance... BeFree 15218356 Detail
0.002 Autoimmune thyroid disease 49A/G and CT60 polymorphisms of the cytotoxic T-lymphocyte-associated antigen 4 ... BeFree 19559744 Detail
<0.001 Generalized vitiligo Examination of five SNPs in the CTLA4 gene (rs1863800, rs231775, rs3087243, rs11... BeFree 18200060 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) AND Hashimoto thyroiditis, susceptibility to ClinVar Detail
NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) AND Thyroid-associated orbitopathy, susceptibility to ClinVar Detail
NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) AND Systemic lupus erythematosus, susceptibility to ClinVar Detail
NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) AND Celiac disease, susceptibility to, 3 ClinVar Detail
NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) AND not specified ClinVar Detail
NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) AND TYPE 1 DIABETES MELLITUS 12, SUSCEPTIBILITY TO ClinVar Detail
NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) AND Autoimmune lymphoproliferative syndrome due to CTLA4 hap... ClinVar Detail
NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) AND not provided ClinVar Detail
Association of GV with CTLA4 (rs12992492, P=5.9E-05, OR=1.20; meta-P for rs231775=1.0E-04) seems to ... DisGeNET Detail
Association of GV with CTLA4 (rs12992492, P=5.9E-05, OR=1.20; meta-P for rs231775=1.0E-04) seems to ... DisGeNET Detail
To investigate associations between total serum immunoglobulin E (IgE) levels and single nucleotide ... DisGeNET Detail
To investigate associations between total serum immunoglobulin E (IgE) levels and single nucleotide ... DisGeNET Detail
To investigate associations between total serum immunoglobulin E (IgE) levels and single nucleotide ... DisGeNET Detail
Our data indicate that CTLA-4 exon 1 position 49 A/G dimorphism was significantly associated with pr... DisGeNET Detail
Six autoimmune disease-related risk alleles of CTLA4 (rs1863800, rs733618, rs4553808, rs5742909, rs2... DisGeNET Detail
A predisposing effect of rs1863800*C, rs733618*C, and rs231775*G of CTLA4 gene to general risk of MG... DisGeNET Detail
CTLA-4 49 A/G dimorphism and type 1 diabetes susceptibility: a French case-control study and segrega... DisGeNET Detail
Association of the CTLA-4 gene 49 A/G polymorphism with type 1 diabetes and autoimmune thyroid disea... DisGeNET Detail
CTLA4 exon1 A49G polymorphism in Slovak patients with rheumatoid arthritis and Hashimoto thyroiditis... DisGeNET Detail
The current study evaluated the association of four CTLA-4 gene mutations, -1661A/G (rs4553808), -31... DisGeNET Detail
Association of CTLA-4 gene 49A/G polymorphism with the incidence of type 1 diabetes mellitus in the ... DisGeNET Detail
In this study, we investigated the association of CTLA-4 gene polymorphisms (- 1661A/G; - 318C/T; + ... DisGeNET Detail
49A/G and CT60 polymorphisms of the cytotoxic T-lymphocyte-associated antigen 4 gene associated with... DisGeNET Detail
Families of 531 children with JIA were genotyped for SNPs located in the promoter region (C-318T), e... DisGeNET Detail
CTLA-4, position 49 A/G polymorphism associated with coronary artery lesions in Kawasaki disease. DisGeNET Detail
The role of CTLA-4 exon-1 49 A/G polymorphism and soluble CTLA-4 protein level in egyptian patients ... DisGeNET Detail
Association between IL-18 gene promoter polymorphisms and CTLA-4 gene 49A/G polymorphism in Japanese... DisGeNET Detail
Association of the CTLA-4 gene 49 A/G polymorphism with type 1 diabetes and autoimmune thyroid disea... DisGeNET Detail
CTLA-4 and autoimmune thyroid disease: lack of influence of the A49G signal peptide polymorphism on ... DisGeNET Detail
CTLA-4 gene 49A/G polymorphism in Turkish patients with Behçet's disease. DisGeNET Detail
[The genetic contribution towards predicting early-onset disease in patients with SLE is quantified ... DisGeNET Detail
The influence of polymorphisms of INS(-23Hph1), CTLA-4(T17A), and PTPN22(R620W) on development of pe... DisGeNET Detail
CTLA4 exon1 A49G polymorphism in Slovak patients with rheumatoid arthritis and Hashimoto thyroiditis... DisGeNET Detail
NA DisGeNET Detail
We investigated the distribution of CTLA-4 A49G polymorphism in 264 Caucasian patients with Graves' ... DisGeNET Detail
Association of PTPN22 C1858T and CTLA-4 A49G polymorphisms with Type 1 Diabetes in Croatians. DisGeNET Detail
Association between IL-18 gene promoter polymorphisms and CTLA-4 gene 49A/G polymorphism in Japanese... DisGeNET Detail
The cytotoxic T lymphocyte-associated antigen (CTLA)-4 molecule plays an important role in immune re... DisGeNET Detail
The influence of polymorphisms of INS(-23Hph1), CTLA-4(T17A), and PTPN22(R620W) on development of pe... DisGeNET Detail
Gene polymorphisms involving CTLA-4 promoter (-318 C/T), exon 1 (49 A/G), and exon 4 (microsatellite... DisGeNET Detail
This meta-analysis demonstrated that the G allele of rs231775 of CTLA-4 is a risk factor associated ... DisGeNET Detail
Association of PTPN22 C1858T and CTLA-4 A49G polymorphisms with Type 1 Diabetes in Croatians. DisGeNET Detail
The ctla-4 49A/G polymorphism was studied in 197 women with primary breast cancer and 151 age/sex ma... DisGeNET Detail
The current study evaluated the association of four CTLA-4 gene mutations, -1661A/G (rs4553808), -31... DisGeNET Detail
Updated analysis of studies on the cytotoxic T-lymphocyte-associated antigen-4 gene A49G polymorphis... DisGeNET Detail
The CTLA-4 49 A/G polymorphism was detected by the PCR-restriction fragment-length polymorphism (RFL... DisGeNET Detail
Families of 531 children with JIA were genotyped for SNPs located in the promoter region (C-318T), e... DisGeNET Detail
Particularly, association of three polymorphic markers of CTLA4 gene, namely, C(-318)T, A49G, and (A... DisGeNET Detail
This meta-analysis demonstrated that the G49A and C60T polymorphism of CTLA4 is a risk factor associ... DisGeNET Detail
We analysed the SNPs -318C/T and 49A/G in CTLA-4 in patients with Behcet's disease (BD), patients wi... DisGeNET Detail
The ctla-4 49A/G polymorphism was studied in 197 women with primary breast cancer and 151 age/sex ma... DisGeNET Detail
49A/G and CT60 polymorphisms of the cytotoxic T-lymphocyte-associated antigen 4 gene associated with... DisGeNET Detail
Examination of five SNPs in the CTLA4 gene (rs1863800, rs231775, rs3087243, rs11571302, rs11571297, ... DisGeNET Detail
Influence of cytotoxic T lymphocyte-associated antigen 4 (CTLA4) common polymorphisms on outcome in ... MMMP Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs231775 dbSNP
Genome
hg19
Position
chr2:204,732,714-204,732,714
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
60.06
Standard deviation of sample read depth (HGVD)
27.74
Number of reference allele (HGVD)
958
Number of alternative allele (HGVD)
1462
Allele Frequency (HGVD)
0.6041322314049586
Gene Symbol (HGVD)
CTLA4
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs231775
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6206
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10401
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8638
East Asian Allele Counts (ExAC)
5778
East Asian Heterozygous Counts (ExAC)
1887
East Asian Homozygous Counts (ExAC)
1945
East Asian Allele Frequency (ExAC)
0.668904839083121
Chromosome Counts in All Race (ExAC)
121346
Allele Counts in All Race (ExAC)
49892
Heterozygous Counts in All Race (ExAC)
28131
Homozygous Counts in All Race (ExAC)
10880
Allele Frequency in All Race (ExAC)
0.4111548794356633
MMMP State (molecule) (MMMP)
polymorphism rs231775
Genome browser