NEU4 neuraminidase 4
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 8 |
| Uncertain significance | 0 | 104 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
112 |
 |
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
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| 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
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| 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
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| 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 |
|---|---|
| MIM | 608527 OMIM |
| HGNC | HGNC:21328 HGNC |
| Ensembl | ENSG00000204099 Ensembl |
| AllianceGenome | HGNC:21328 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000391969.6 | hg38 | chr2 | 241,810,935 | 241,817,408 | 6,474 |
| ENST00000404257.5 | hg38 | chr2 | 241,810,932 | 241,817,412 | 6,481 |
| ENST00000325935.10 | hg38 | chr2 | 241,811,000 | 241,817,413 | 6,414 |
| ENST00000405370.5 | hg38 | chr2 | 241,809,187 | 241,817,406 | 8,220 |
| ENST00000407683.6 | hg38 | chr2 | 241,809,193 | 241,817,413 | 8,221 |
| ENST00000405370.5 | hg19 | chr2 | 242,750,282 | 242,758,732 | 8,451 |
| ENST00000325935.10 | hg19 | chr2 | 242,752,095 | 242,758,739 | 6,645 |
| ENST00000391969.6 | hg19 | chr2 | 242,752,030 | 242,758,734 | 6,705 |
| ENST00000404257.5 | hg19 | chr2 | 242,752,027 | 242,758,738 | 6,712 |
| ENST00000407683.6 | hg19 | chr2 | 242,750,288 | 242,758,739 | 8,452 |
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