CHIC2 cysteine rich hydrophobic domain 2
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 4 |
Uncertain significance | 0 | 8 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
0 |
![]() |
12 |
![]() |
0 |
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 | BTL |
MIM | 604332 OMIM |
HGNC | HGNC:1935 HGNC |
Ensembl | ENSG00000109220 Ensembl |
AllianceGenome | HGNC:1935 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000263921.8 | hg38 | chr4 | 54,009,789 | 54,064,605 | 54,817 |
ENST00000512964.5 | hg38 | chr4 | 54,009,825 | 54,064,300 | 54,476 |
ENST00000263921.8 | hg19 | chr4 | 54,875,956 | 54,930,772 | 54,817 |
ENST00000512964.5 | hg19 | chr4 | 54,875,992 | 54,930,467 | 54,476 |
Key | Value |
---|---|
strand | - |
start | 54,875,957 |
Gene Symbol | CHIC2 |
Entrez GeneId | 26,511 |
Chr Band | 4q11-q12 |
end | 54,930,814 |
chr | chr4 |
Name | cysteine-rich hydrophobic domain 2 |
Genome browser