NEU1 neuraminidase 1
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 98 |
Likely pathogenic | 0 | 38 |
Benign | 0 | 14 |
Likely benign | 0 | 256 |
Conflicting classifications of pathogenicity | 0 | 36 |
not provided | 3 | 0 |
Uncertain significance | 0 | 144 |
Ranking
ClinVar | |
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0 |
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0 |
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66 |
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446 |
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20 |
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
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | NANH |
SYNONYM | NEU |
SYNONYM | SIAL1 |
MIM | 608272 OMIM |
HGNC | HGNC:7758 HGNC |
Ensembl | ENSG00000204386 Ensembl |
AllianceGenome | HGNC:7758 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000375631.5 | hg38 | chr6 | 31,857,659 | 31,862,821 | 5,163 |
ENST00000375631.5 | hg19 | chr6 | 31,825,436 | 31,830,598 | 5,163 |
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