NAB2 NGFI-A binding protein 2
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Likely benign | 0 | 2 |
not provided | 5 | 0 |
Uncertain significance | 0 | 40 |
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 | MADER |
MIM | 602381 OMIM |
HGNC | HGNC:7627 HGNC |
Ensembl | ENSG00000166886 Ensembl |
AllianceGenome | HGNC:7627 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000300131.8 | hg38 | chr12 | 57,089,114 | 57,095,476 | 6,363 |
ENST00000342556.6 | hg38 | chr12 | 57,089,094 | 57,095,475 | 6,382 |
ENST00000342556.6 | hg19 | chr12 | 57,482,877 | 57,489,258 | 6,382 |
ENST00000300131.8 | hg19 | chr12 | 57,482,897 | 57,489,259 | 6,363 |
Key | Value |
---|---|
strand | + |
start | 57,482,676 |
Gene Symbol | NAB2 |
Entrez GeneId | 4,665 |
Chr Band | 12q13.3 |
end | 57,489,258 |
chr | chr12 |
Name | NGFI-A binding protein 2 |
Genome browser