TMPRSS11A transmembrane serine protease 11A
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 2 |
Uncertain significance | 0 | 54 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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56 |
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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
[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 | |||||
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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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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 | ECRG1 |
SYNONYM | HATL1 |
SYNONYM | HESP |
MIM | 611704 OMIM |
HGNC | HGNC:27954 HGNC |
Ensembl | ENSG00000187054 Ensembl |
AllianceGenome | HGNC:27954 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000714501.1 | hg38 | chr4 | 67,910,301 | 67,964,140 | 53,840 |
ENST00000508048.6 | hg38 | chr4 | 67,909,395 | 67,963,493 | 54,099 |
ENST00000513536.6 | hg38 | chr4 | 67,911,310 | 67,963,493 | 52,184 |
ENST00000334830.11 | hg38 | chr4 | 67,910,301 | 67,964,140 | 53,840 |
ENST00000508048.6 | hg19 | chr4 | 68,775,113 | 68,829,211 | 54,099 |
ENST00000714501.1 | hg19 | chr4 | 68,776,019 | 68,829,858 | 53,840 |
ENST00000334830.11 | hg19 | chr4 | 68,776,019 | 68,829,858 | 53,840 |
ENST00000513536.6 | hg19 | chr4 | 68,777,028 | 68,829,211 | 52,184 |
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