HAMP hepcidin antimicrobial peptide
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 1 | 10 |
| Likely pathogenic | 0 | 4 |
| Benign | 0 | 14 |
| Likely benign | 0 | 96 |
| Conflicting classifications of pathogenicity | 0 | 12 |
| Uncertain significance | 0 | 30 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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14 |
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130 |
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8 |
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 | : |
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| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
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| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | HEPC |
| SYNONYM | HFE2B |
| SYNONYM | LEAP1 |
| SYNONYM | PLTR |
| MIM | 606464 OMIM |
| HGNC | HGNC:15598 HGNC |
| Ensembl | ENSG00000105697 Ensembl |
| AllianceGenome | HGNC:15598 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000222304.5 | hg38 | chr19 | 35,282,528 | 35,285,143 | 2,616 |
| ENST00000598398.5 | hg38 | chr19 | 35,280,716 | 35,285,143 | 4,428 |
| ENST00000598398.5 | hg19 | chr19 | 35,771,619 | 35,776,046 | 4,428 |
| ENST00000222304.5 | hg19 | chr19 | 35,773,431 | 35,776,046 | 2,616 |
| Key | Value |
|---|---|
| strand | + |
| start | 35,773,248 |
| Gene Symbol | HAMP |
| Entrez GeneId | 57,817 |
| Chr Band | 19q13.1 |
| end | 35,776,044 |
| chr | chr19 |
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