TTC19 tetratricopeptide repeat domain 19

Information
Symbol
TTC19
Type
protein-coding
Description
tetratricopeptide repeat domain 19
Entrez Gene ID
54902
Genome
hg19
Position
chr17:15,903,138-15,932,718
Genome
hg38
Position
chr17:15,999,824-16,029,404
MIM
613814 OMIM
HGNC
HGNC:26006 HGNC
Ensembl
ENSG00000011295 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 3 22
Likely pathogenic 0 18
Benign 0 74
Likely benign 0 164
Conflicting classifications of pathogenicity 0 42
Uncertain significance 0 236
Ranking
ClinVar
0
0
70
430
4
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 2010204O13Rik
SYNONYM MC3DN2
MIM 613814 OMIM
HGNC HGNC:26006 HGNC
Ensembl ENSG00000011295 Ensembl
AllianceGenome HGNC:26006
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000261647.10 hg38 chr17 15,999,824 16,029,404 29,581
ENST00000261647.10 hg19 chr17 15,903,138 15,932,718 29,581
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