TCAP titin-cap

Information
Symbol
TCAP
Type
protein-coding
Description
titin-cap
Entrez Gene ID
8557
Genome
hg19
Position
chr17:37,821,602-37,822,807
Genome
hg38
Position
chr17:39,665,349-39,666,554
MIM
604488 OMIM
HGNC
HGNC:11610 HGNC
Ensembl
ENSG00000173991 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 34
Likely pathogenic 0 26
Benign 0 16
Likely benign 0 146
Conflicting classifications of pathogenicity 0 42
Uncertain significance 0 336
Ranking
ClinVar
0
0
196
338
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 CMD1N
SYNONYM CMH25
SYNONYM LGMD2G
SYNONYM LGMDR7
SYNONYM T-cap
SYNONYM TELE
SYNONYM telethonin
MIM 604488 OMIM
HGNC HGNC:11610 HGNC
Ensembl ENSG00000173991 Ensembl
AllianceGenome HGNC:11610
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000578283.1 hg38 chr17 39,665,349 39,666,249 901
ENST00000309889.3 hg38 chr17 39,665,349 39,666,554 1,206
ENST00000578283.1 hg19 chr17 37,821,602 37,822,502 901
ENST00000309889.3 hg19 chr17 37,821,602 37,822,807 1,206
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