TTPA alpha tocopherol transfer protein

Information
Symbol
TTPA
Type
protein-coding
Description
alpha tocopherol transfer protein
Entrez Gene ID
7274
Genome
hg19
Position
chr8:63,972,047-63,998,612
Genome
hg38
Position
chr8:63,059,488-63,086,053
MIM
600415 OMIM
HGNC
HGNC:12404 HGNC
Ensembl
ENSG00000137561 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 12 102
Likely pathogenic 0 82
Benign 0 44
Likely benign 2 352
Conflicting classifications of pathogenicity 0 30
not provided 0 8
Uncertain significance 0 282
Ranking
ClinVar
0
0
128
690
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
TypeID
SYNONYM ATTP
SYNONYM AVED
SYNONYM TTP1
SYNONYM alphaTTP
MIM 600415 OMIM
HGNC HGNC:12404 HGNC
Ensembl ENSG00000137561 Ensembl
AllianceGenome HGNC:12404
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000260116.5 hg38 chr8 63,059,488 63,086,053 26,566
ENST00000260116.5 hg19 chr8 63,972,047 63,998,612 26,566
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