CABP4 calcium binding protein 4
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 38 |
Likely pathogenic | 0 | 12 |
Benign | 0 | 64 |
Likely benign | 0 | 174 |
Conflicting classifications of pathogenicity | 0 | 58 |
not provided | 2 | 0 |
Uncertain significance | 0 | 422 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
62 |
![]() |
634 |
![]() |
4 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 | CRSD |
SYNONYM | CSNB2B |
MIM | 608965 OMIM |
HGNC | HGNC:1386 HGNC |
Ensembl | ENSG00000175544 Ensembl |
AllianceGenome | HGNC:1386 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000438189.6 | hg38 | chr11 | 67,452,415 | 67,459,228 | 6,814 |
ENST00000325656.7 | hg38 | chr11 | 67,455,354 | 67,461,752 | 6,399 |
ENST00000438189.6 | hg19 | chr11 | 67,219,886 | 67,226,699 | 6,814 |
ENST00000325656.7 | hg19 | chr11 | 67,222,825 | 67,229,223 | 6,399 |
Genome browser