CD247 CD247 molecule
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 14 |
Likely pathogenic | 0 | 2 |
Benign | 0 | 50 |
Likely benign | 0 | 144 |
Conflicting classifications of pathogenicity | 0 | 2 |
Uncertain significance | 0 | 124 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
38 |
![]() |
286 |
![]() |
8 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data | : |
MGeND data only
|
Category | : |
|
Search word | : | |
Filtering | : |
Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
MGeND data only
|
Category | : |
|
Search word | : | |
Filtering | : |
Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
|
Category | : |
|
Search word | : | |
Filtering | : |
Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | CD3-ZETA |
SYNONYM | CD3H |
SYNONYM | CD3Q |
SYNONYM | CD3Z |
SYNONYM | CD3ZETA |
SYNONYM | IMD25 |
SYNONYM | T3Z |
SYNONYM | TCRZ |
MIM | 186780 OMIM |
HGNC | HGNC:1677 HGNC |
Ensembl | ENSG00000198821 Ensembl |
AllianceGenome | HGNC:1677 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000700157.1 | hg38 | chr1 | 167,430,640 | 167,439,664 | 9,025 |
ENST00000700156.1 | hg38 | chr1 | 167,430,640 | 167,439,653 | 9,014 |
ENST00000700155.1 | hg38 | chr1 | 167,430,640 | 167,439,579 | 8,940 |
ENST00000700159.1 | hg38 | chr1 | 167,430,640 | 167,518,592 | 87,953 |
ENST00000700158.1 | hg38 | chr1 | 167,430,640 | 167,455,687 | 25,048 |
ENST00000392122.4 | hg38 | chr1 | 167,430,634 | 167,518,640 | 88,007 |
ENST00000700142.1 | hg38 | chr1 | 167,437,761 | 167,518,592 | 80,832 |
ENST00000476733.6 | hg38 | chr1 | 167,431,161 | 167,439,643 | 8,483 |
ENST00000362089.10 | hg38 | chr1 | 167,430,640 | 167,518,529 | 87,890 |
ENST00000700161.1 | hg38 | chr1 | 167,437,761 | 167,439,631 | 1,871 |
ENST00000700160.1 | hg38 | chr1 | 167,430,640 | 167,518,592 | 87,953 |
ENST00000700165.1 | hg38 | chr1 | 167,430,640 | 167,518,529 | 87,890 |
ENST00000700108.1 | hg38 | chr1 | 167,430,640 | 167,518,593 | 87,954 |
ENST00000700107.1 | hg38 | chr1 | 167,430,640 | 167,518,582 | 87,943 |
ENST00000700106.1 | hg38 | chr1 | 167,430,640 | 167,518,529 | 87,890 |
ENST00000700105.1 | hg38 | chr1 | 167,425,027 | 167,518,565 | 93,539 |
ENST00000700109.1 | hg38 | chr1 | 167,430,644 | 167,518,529 | 87,886 |
ENST00000470379.2 | hg38 | chr1 | 167,430,640 | 167,439,653 | 9,014 |
ENST00000700134.1 | hg38 | chr1 | 167,430,640 | 167,518,538 | 87,899 |
ENST00000392122.4 | hg19 | chr1 | 167,399,871 | 167,487,877 | 88,007 |
ENST00000470379.2 | hg19 | chr1 | 167,399,877 | 167,408,890 | 9,014 |
ENST00000700109.1 | hg19 | chr1 | 167,399,881 | 167,487,766 | 87,886 |
ENST00000476733.6 | hg19 | chr1 | 167,400,398 | 167,408,880 | 8,483 |
ENST00000700105.1 | hg19 | chr1 | 167,394,264 | 167,487,802 | 93,539 |
ENST00000362089.10 | hg19 | chr1 | 167,399,877 | 167,487,766 | 87,890 |
ENST00000700106.1 | hg19 | chr1 | 167,399,877 | 167,487,766 | 87,890 |
ENST00000700107.1 | hg19 | chr1 | 167,399,877 | 167,487,819 | 87,943 |
ENST00000700108.1 | hg19 | chr1 | 167,399,877 | 167,487,830 | 87,954 |
ENST00000700134.1 | hg19 | chr1 | 167,399,877 | 167,487,775 | 87,899 |
ENST00000700160.1 | hg19 | chr1 | 167,399,877 | 167,487,829 | 87,953 |
ENST00000700159.1 | hg19 | chr1 | 167,399,877 | 167,487,829 | 87,953 |
ENST00000700155.1 | hg19 | chr1 | 167,399,877 | 167,408,816 | 8,940 |
ENST00000700161.1 | hg19 | chr1 | 167,406,998 | 167,408,868 | 1,871 |
ENST00000700142.1 | hg19 | chr1 | 167,406,998 | 167,487,829 | 80,832 |
ENST00000700156.1 | hg19 | chr1 | 167,399,877 | 167,408,890 | 9,014 |
ENST00000700157.1 | hg19 | chr1 | 167,399,877 | 167,408,901 | 9,025 |
ENST00000700158.1 | hg19 | chr1 | 167,399,877 | 167,424,924 | 25,048 |
ENST00000700165.1 | hg19 | chr1 | 167,399,877 | 167,487,766 | 87,890 |
Genome browser