GPM6B glycoprotein M6B
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Likely benign | 0 | 6 |
not provided | 7 | 0 |
Uncertain significance | 0 | 14 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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22 |
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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
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 |
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 | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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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 | M6B |
MIM | 300051 OMIM |
HGNC | HGNC:4461 HGNC |
Ensembl | ENSG00000046653 Ensembl |
AllianceGenome | HGNC:4461 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000356942.9 | hg38 | chrX | 13,773,954 | 13,817,346 | 43,393 |
ENST00000454189.7 | hg38 | chrX | 13,770,939 | 13,938,638 | 167,700 |
ENST00000316715.9 | hg38 | chrX | 13,770,939 | 13,817,093 | 46,155 |
ENST00000355135.6 | hg38 | chrX | 13,773,954 | 13,817,069 | 43,116 |
ENST00000493677.5 | hg38 | chrX | 13,772,699 | 13,817,069 | 44,371 |
ENST00000398361.7 | hg38 | chrX | 13,774,337 | 13,938,415 | 164,079 |
ENST00000316715.9 | hg19 | chrX | 13,789,058 | 13,835,212 | 46,155 |
ENST00000454189.7 | hg19 | chrX | 13,789,058 | 13,956,757 | 167,700 |
ENST00000493677.5 | hg19 | chrX | 13,790,818 | 13,835,188 | 44,371 |
ENST00000355135.6 | hg19 | chrX | 13,792,073 | 13,835,188 | 43,116 |
ENST00000356942.9 | hg19 | chrX | 13,792,073 | 13,835,465 | 43,393 |
ENST00000398361.7 | hg19 | chrX | 13,792,456 | 13,956,534 | 164,079 |
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