chr2:202074098:G>A Detail (hg19) (CASP10)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr2:202,074,098-202,074,098 |
hg38 | chr2:201,209,375-201,209,375 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_032974.4:c.1228G>A | NP_116756.2:p.Val410Ile |
NM_032977.3:c.1228G>A | NP_116759.2:p.Val410Ile | |
NM_001230.4:c.1099G>A | NP_001221.2:p.Val367Ile |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
Prediction
ClinVar
Clinical Significance |
![]() |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2024-01-31 | criteria provided, multiple submitters, no conflicts | autoimmune lymphoproliferative syndrome type 2A |
![]() |
Detail |
![]() |
2019-04-15 | criteria provided, single submitter | not provided |
![]() |
Detail |
![]() |
no assertion criteria provided | not specified |
![]() |
Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | Invasive breast carcinoma | In conclusion, our data provide persuasive evidence against an overall associati... | BeFree | 19423537 | Detail |
0.001 | breast carcinoma | Previous studies have suggested that minor alleles for ERCC4 rs744154, TNF rs361... | BeFree | 19423537 | Detail |
0.006 | Malignant neoplasm of breast | Previous studies have suggested that minor alleles for ERCC4 rs744154, TNF rs361... | BeFree | 19423537 | Detail |
0.049 | Malignant neoplasm of breast | As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mu... | BeFree | 16251207 | Detail |
0.082 | ovarian carcinoma | Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian... | BeFree | 20978178 | Detail |
<0.001 | ovarian carcinoma | Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian... | BeFree | 20978178 | Detail |
0.001 | breast carcinoma | Previous case-control studies have indicated that the polymorphisms CASP8 D302H ... | BeFree | 20978178 | Detail |
0.006 | Malignant neoplasm of ovary | Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian... | BeFree | 20978178 | Detail |
<0.001 | Breast Cancer, Familial | Association of the CASP10 V410I variant with reduced familial breast cancer risk... | BeFree | 16251207 | Detail |
0.009 | breast carcinoma | As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mu... | BeFree | 16251207 | Detail |
<0.001 | Carcinogenesis | As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mu... | BeFree | 16251207 | Detail |
0.002 | ovarian carcinoma | Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian... | BeFree | 20978178 | Detail |
0.280 | Malignant neoplasm of ovary | Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian... | BeFree | 20978178 | Detail |
0.280 | Malignant neoplasm of ovary | Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian... | BeFree | 20978178 | Detail |
0.003 | Malignant neoplasm of ovary | Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian... | BeFree | 20978178 | Detail |
0.006 | Malignant neoplasm of breast | Previous case-control studies have indicated that the polymorphisms CASP8 D302H ... | BeFree | 20978178 | Detail |
0.080 | ovarian carcinoma | Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian... | BeFree | 20978178 | Detail |
0.003 | Carcinogenesis | As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mu... | BeFree | 16251207 | Detail |
<0.001 | Breast Cancer, Familial | Association of the CASP10 V410I variant with reduced familial breast cancer risk... | BeFree | 16251207 | Detail |
0.006 | Malignant neoplasm of breast | As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mu... | BeFree | 16251207 | Detail |
0.001 | breast carcinoma | As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mu... | BeFree | 16251207 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_032977.4(CASP10):c.1228G>A (p.Val410Ile) AND Autoimmune lymphoproliferative syndrome type 2A | ClinVar | Detail |
NM_032977.4(CASP10):c.1228G>A (p.Val410Ile) AND not provided | ClinVar | Detail |
NM_032977.4(CASP10):c.1228G>A (p.Val410Ile) AND not specified | ClinVar | Detail |
In conclusion, our data provide persuasive evidence against an overall association between invasive ... | DisGeNET | Detail |
Previous studies have suggested that minor alleles for ERCC4 rs744154, TNF rs361525, CASP10 rs130106... | DisGeNET | Detail |
Previous studies have suggested that minor alleles for ERCC4 rs744154, TNF rs361525, CASP10 rs130106... | DisGeNET | Detail |
As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mutual effect of both ... | DisGeNET | Detail |
Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA... | DisGeNET | Detail |
Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA... | DisGeNET | Detail |
Previous case-control studies have indicated that the polymorphisms CASP8 D302H and CASP10 V410I are... | DisGeNET | Detail |
Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA... | DisGeNET | Detail |
Association of the CASP10 V410I variant with reduced familial breast cancer risk and interaction wit... | DisGeNET | Detail |
As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mutual effect of both ... | DisGeNET | Detail |
As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mutual effect of both ... | DisGeNET | Detail |
Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA... | DisGeNET | Detail |
Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA... | DisGeNET | Detail |
Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA... | DisGeNET | Detail |
Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA... | DisGeNET | Detail |
Previous case-control studies have indicated that the polymorphisms CASP8 D302H and CASP10 V410I are... | DisGeNET | Detail |
Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA... | DisGeNET | Detail |
As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mutual effect of both ... | DisGeNET | Detail |
Association of the CASP10 V410I variant with reduced familial breast cancer risk and interaction wit... | DisGeNET | Detail |
As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mutual effect of both ... | DisGeNET | Detail |
As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mutual effect of both ... | DisGeNET | 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
- rs13010627 dbSNP
- Genome
- hg19
- Position
- chr2:202,074,098-202,074,098
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8648
- East Asian Allele Counts (ExAC)
- 2
- East Asian Heterozygous Counts (ExAC)
- 2
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 2.3126734505087883E-4
- Chromosome Counts in All Race (ExAC)
- 121386
- Allele Counts in All Race (ExAC)
- 5165
- Heterozygous Counts in All Race (ExAC)
- 4831
- Homozygous Counts in All Race (ExAC)
- 167
- Allele Frequency in All Race (ExAC)
- 0.04255021172128581
Genome browser