BNC1 basonuclin zinc finger protein 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Likely pathogenic | 0 | 6 |
Benign | 0 | 4 |
Likely benign | 0 | 10 |
Uncertain significance | 0 | 96 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
0 |
![]() |
116 |
![]() |
2 |
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 | BNC |
SYNONYM | BSN1 |
SYNONYM | HsT19447 |
SYNONYM | POF16 |
SYNONYM | bn1 |
MIM | 601930 OMIM |
HGNC | HGNC:1081 HGNC |
Ensembl | ENSG00000169594 Ensembl |
AllianceGenome | HGNC:1081 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000569704.2 | hg38 | chr15 | 83,255,884 | 83,283,457 | 27,574 |
ENST00000345382.7 | hg38 | chr15 | 83,255,884 | 83,284,664 | 28,781 |
ENST00000569704.2 | hg19 | chr15 | 83,924,636 | 83,952,209 | 27,574 |
ENST00000345382.7 | hg19 | chr15 | 83,924,636 | 83,953,416 | 28,781 |
Genome browser