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 | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
14 |
![]() |
130 |
![]() |
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 | : |
MGeND data only
|
Category | : |
|
Search word | : | |
Filtering | : |
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 |
Search Word
Target data | : |
MGeND data only
|
Category | : |
|
Search word | : | |
Filtering | : |
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
|
Category | : |
|
Search word | : | |
Filtering | : |
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 |
Genome browser