NEUROD1 neuronal differentiation 1
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 4 |
| Likely pathogenic | 0 | 2 |
| Benign | 6 | 14 |
| Likely benign | 0 | 144 |
| Conflicting classifications of pathogenicity | 0 | 14 |
| Uncertain significance | 0 | 346 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
92 |
 |
404 |
 |
8 |
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 | BETA2 |
| SYNONYM | BHF-1 |
| SYNONYM | MODY6 |
| SYNONYM | NEUROD |
| SYNONYM | T2D |
| SYNONYM | bHLHa3 |
| MIM | 601724 OMIM |
| HGNC | HGNC:7762 HGNC |
| Ensembl | ENSG00000162992 Ensembl |
| AllianceGenome | HGNC:7762 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000295108.4 | hg38 | chr2 | 181,676,467 | 181,680,517 | 4,051 |
| ENST00000683430.1 | hg38 | chr2 | 181,677,506 | 181,680,520 | 3,015 |
| ENST00000684079.1 | hg38 | chr2 | 181,677,241 | 181,680,517 | 3,277 |
| ENST00000295108.4 | hg19 | chr2 | 182,541,194 | 182,545,244 | 4,051 |
| ENST00000684079.1 | hg19 | chr2 | 182,541,968 | 182,545,244 | 3,277 |
| ENST00000683430.1 | hg19 | chr2 | 182,542,233 | 182,545,247 | 3,015 |
Genome browser