TCTN1 tectonic family member 1

Information
Symbol
TCTN1
Type
protein-coding
Description
tectonic family member 1
Entrez Gene ID
79600
Genome
hg19
Position
chr12:111,051,934-111,087,235
Genome
hg38
Position
chr12:110,614,129-110,649,430
MIM
609863 OMIM
HGNC
HGNC:26113 HGNC
Ensembl
ENSG00000204852 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 44
Likely pathogenic 0 38
Benign 0 60
Likely benign 0 342
Conflicting classifications of pathogenicity 0 28
Uncertain significance 0 318
Ranking
ClinVar
0
0
120
656
6
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
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 JBTS13
SYNONYM TECT1
MIM 609863 OMIM
HGNC HGNC:26113 HGNC
Ensembl ENSG00000204852 Ensembl
AllianceGenome HGNC:26113
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000551590.5 hg38 chr12 110,614,027 110,649,430 35,404
ENST00000397659.9 hg38 chr12 110,614,129 110,649,430 35,302
ENST00000397655.7 hg38 chr12 110,614,113 110,649,128 35,016
ENST00000377654.5 hg38 chr12 110,614,113 110,647,893 33,781
ENST00000549123.6 hg38 chr12 110,614,113 110,649,128 35,016
ENST00000679401.1 hg38 chr12 110,614,128 110,630,228 16,101
ENST00000614115.5 hg38 chr12 110,614,113 110,647,893 33,781
ENST00000550703.6 hg38 chr12 110,614,027 110,630,287 16,261
ENST00000680445.1 hg38 chr12 110,614,181 110,649,128 34,948
ENST00000550703.6 hg19 chr12 111,051,832 111,068,092 16,261
ENST00000551590.5 hg19 chr12 111,051,832 111,087,235 35,404
ENST00000377654.5 hg19 chr12 111,051,918 111,085,698 33,781
ENST00000397659.9 hg19 chr12 111,051,934 111,087,235 35,302
ENST00000549123.6 hg19 chr12 111,051,918 111,086,933 35,016
ENST00000614115.5 hg19 chr12 111,051,918 111,085,698 33,781
ENST00000397655.7 hg19 chr12 111,051,918 111,086,933 35,016
ENST00000679401.1 hg19 chr12 111,051,933 111,068,033 16,101
ENST00000680445.1 hg19 chr12 111,051,986 111,086,933 34,948
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