FUT2 fucosyltransferase 2 (H blood group)
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Benign | 0 | 14 |
Likely benign | 0 | 12 |
Benign; confers sensitivity | 0 | 2 |
confers sensitivity | 0 | 10 |
confers sensitivity; other | 0 | 2 |
Uncertain significance | 0 | 40 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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4 |
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62 |
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16 |
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
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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 |
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 |
---|---|
SYNONYM | B12QTL1 |
SYNONYM | SE |
SYNONYM | SEC2 |
SYNONYM | Se2 |
SYNONYM | sej |
MIM | 182100 OMIM |
HGNC | HGNC:4013 HGNC |
Ensembl | ENSG00000176920 Ensembl |
AllianceGenome | HGNC:4013 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000425340.3 | hg38 | chr19 | 48,695,971 | 48,705,951 | 9,981 |
ENST00000425340.3 | hg19 | chr19 | 49,199,228 | 49,209,208 | 9,981 |
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