SLC19A3 solute carrier family 19 member 3

Information
Symbol
SLC19A3
Type
protein-coding
Description
solute carrier family 19 member 3
Entrez Gene ID
80704
Genome
hg19
Position
chr2:228,548,479-228,582,744
Genome
hg38
Position
chr2:227,683,763-227,718,028
MIM
606152 OMIM
HGNC
HGNC:16266 HGNC
Ensembl
ENSG00000135917 Ensembl
Links
NCBI Gene Cards OncoKB
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
0
0
150
1,028
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
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
TypeID
SYNONYM BBGD
SYNONYM THMD2
SYNONYM THTR2
SYNONYM hTHTR2
SYNONYM thTr-2
MIM 606152 OMIM
HGNC HGNC:16266 HGNC
Ensembl ENSG00000135917 Ensembl
AllianceGenome HGNC:16266
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
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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