SLC19A3 solute carrier family 19 member 3
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 9 | 102 |
Likely pathogenic | 0 | 42 |
Benign | 0 | 130 |
Likely benign | 0 | 434 |
Conflicting classifications of pathogenicity | 0 | 72 |
other | 1 | 0 |
Uncertain significance | 0 | 516 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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150 |
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1,028 |
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14 |
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
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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 |
Search Word
Target data | : |
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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Search word | : | |
Filtering | : |
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 | BBGD |
SYNONYM | THMD2 |
SYNONYM | THTR2 |
SYNONYM | hTHTR2 |
SYNONYM | thTr-2 |
MIM | 606152 OMIM |
HGNC | HGNC:16266 HGNC |
Ensembl | ENSG00000135917 Ensembl |
AllianceGenome | HGNC:16266 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000258403.8 | hg38 | chr2 | 227,685,871 | 227,714,612 | 28,742 |
ENST00000644224.2 | hg38 | chr2 | 227,683,763 | 227,718,028 | 34,266 |
ENST00000409287.5 | hg38 | chr2 | 227,685,855 | 227,718,010 | 32,156 |
ENST00000646591.1 | hg38 | chr2 | 227,686,835 | 227,706,656 | 19,822 |
ENST00000644224.2 | hg19 | chr2 | 228,548,479 | 228,582,744 | 34,266 |
ENST00000409287.5 | hg19 | chr2 | 228,550,571 | 228,582,726 | 32,156 |
ENST00000258403.8 | hg19 | chr2 | 228,550,587 | 228,579,328 | 28,742 |
ENST00000646591.1 | hg19 | chr2 | 228,551,551 | 228,571,372 | 19,822 |
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