BORCS8 BLOC-1 related complex subunit 8
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 8 |
not provided | 2 | 0 |
Uncertain significance | 0 | 36 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
0 |
![]() |
44 |
![]() |
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
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 | MEF2BNB |
MIM | 616601 OMIM |
HGNC | HGNC:37247 HGNC |
Ensembl | ENSG00000254901 Ensembl |
AllianceGenome | HGNC:37247 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000585679.1 | hg38 | chr19 | 19,176,906 | 19,192,139 | 15,234 |
ENST00000462790.8 | hg38 | chr19 | 19,176,906 | 19,192,152 | 15,247 |
ENST00000477565.3 | hg38 | chr19 | 19,181,882 | 19,192,589 | 10,708 |
ENST00000585679.1 | hg19 | chr19 | 19,287,715 | 19,302,948 | 15,234 |
ENST00000462790.8 | hg19 | chr19 | 19,287,715 | 19,302,961 | 15,247 |
ENST00000477565.3 | hg19 | chr19 | 19,292,691 | 19,303,398 | 10,708 |
Genome browser