SLC40A1 solute carrier family 40 member 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 2 | 48 |
Likely pathogenic | 0 | 48 |
Benign | 8 | 62 |
Likely benign | 0 | 168 |
Conflicting classifications of pathogenicity | 0 | 16 |
not provided | 0 | 2 |
Uncertain significance | 0 | 164 |
Ranking
ClinVar | |
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0 |
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0 |
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60 |
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352 |
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56 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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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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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 | FPN |
SYNONYM | FPN1 |
SYNONYM | HFE4 |
SYNONYM | IREG1 |
SYNONYM | MST079 |
SYNONYM | MSTP079 |
SYNONYM | MTP1 |
SYNONYM | SLC11A3 |
MIM | 604653 OMIM |
HGNC | HGNC:10909 HGNC |
Ensembl | ENSG00000138449 Ensembl |
AllianceGenome | HGNC:10909 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000261024.7 | hg38 | chr2 | 189,560,590 | 189,580,786 | 20,197 |
ENST00000261024.7 | hg19 | chr2 | 190,425,316 | 190,445,512 | 20,197 |
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