TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase

Information
Symbol
TAFAZZIN
Type
protein-coding
Description
tafazzin, phospholipid-lysophospholipid transacylase
Entrez Gene ID
6901
Genome
hg19
Position
chrX:153,640,181-153,649,343
Genome
hg38
Position
chrX:154,411,844-154,421,004
MIM
300394 OMIM
HGNC
HGNC:11577 HGNC
Ensembl
ENSG00000102125 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 31 108
Likely pathogenic 12 102
Benign 0 34
Likely benign 0 344
Conflicting classifications of pathogenicity 0 51
not provided 6 0
Uncertain significance 0 322
Ranking
ClinVar
0
0
162
684
24
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 BTHS
SYNONYM CMD3A
SYNONYM EFE
SYNONYM EFE2
SYNONYM G4.5
SYNONYM LVNCX
SYNONYM TAZ
SYNONYM Taz1
MIM 300394 OMIM
HGNC HGNC:11577 HGNC
Ensembl ENSG00000102125 Ensembl
AllianceGenome HGNC:11577
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000613002.4 hg38 chrX 154,411,541 154,421,439 9,899
ENST00000652358.1 hg38 chrX 154,411,898 154,421,053 9,156
ENST00000601016.6 hg38 chrX 154,411,539 154,421,726 10,188
ENST00000652354.1 hg38 chrX 154,412,718 154,421,726 9,009
ENST00000475699.6 hg38 chrX 154,411,553 154,421,502 9,950
ENST00000612460.5 hg38 chrX 154,411,539 154,421,700 10,162
ENST00000651139.1 hg38 chrX 154,420,325 154,421,726 1,402
ENST00000369776.8 hg38 chrX 154,411,759 154,421,726 9,968
ENST00000616020.5 hg38 chrX 154,411,844 154,421,004 9,161
ENST00000612012.5 hg38 chrX 154,411,650 154,421,203 9,554
ENST00000369776.8 hg19 chrX 153,640,096 153,650,065 9,970
ENST00000475699.6 hg19 chrX 153,639,889 153,649,841 9,953
ENST00000612012.5 hg19 chrX 153,639,986 153,649,542 9,557
ENST00000612460.5 hg19 chrX 153,639,875 153,650,039 10,165
ENST00000616020.5 hg19 chrX 153,640,181 153,649,343 9,163
ENST00000601016.6 hg19 chrX 153,639,875 153,650,065 10,191
ENST00000613002.4 hg19 chrX 153,639,877 153,649,778 9,902
ENST00000651139.1 hg19 chrX 153,648,664 153,650,065 1,402
ENST00000652354.1 hg19 chrX 153,641,055 153,650,065 9,011
ENST00000652358.1 hg19 chrX 153,640,235 153,649,392 9,158
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