NME8 NME/NM23 family member 8
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 26 | 148 |
Likely benign | 0 | 230 |
Conflicting classifications of pathogenicity | 0 | 8 |
Uncertain significance | 0 | 358 |
Ranking
ClinVar | |
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0 |
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0 |
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168 |
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550 |
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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
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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 |
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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 | CILD6 |
SYNONYM | DNAI8 |
SYNONYM | HEL-S-99 |
SYNONYM | NM23-H8 |
SYNONYM | SPTRX2 |
SYNONYM | TXNDC3 |
SYNONYM | sptrx-2 |
MIM | 607421 OMIM |
HGNC | HGNC:16473 HGNC |
Ensembl | ENSG00000086288 Ensembl |
AllianceGenome | HGNC:16473 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000440017.5 | hg38 | chr7 | 37,849,019 | 37,897,092 | 48,074 |
ENST00000199447.9 | hg38 | chr7 | 37,848,597 | 37,900,397 | 51,801 |
ENST00000199447.9 | hg19 | chr7 | 37,888,199 | 37,939,999 | 51,801 |
ENST00000440017.5 | hg19 | chr7 | 37,888,621 | 37,936,694 | 48,074 |
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