EFCAB13 EF-hand calcium binding domain 13

Information
Symbol
EFCAB13
Type
protein-coding
Description
EF-hand calcium binding domain 13
Entrez Gene ID
124989
Genome
hg19
Position
chr17:45,401,321-45,518,678
Genome
hg38
Position
chr17:47,323,955-47,441,312
HGNC
HGNC:26864 HGNC
Ensembl
ENSG00000178852 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 40
Likely benign 0 14
Uncertain significance 0 72
Ranking
ClinVar
0
0
0
126
0
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 :
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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 C17orf57
HGNC HGNC:26864 HGNC
Ensembl ENSG00000178852 Ensembl
AllianceGenome HGNC:26864
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000517484.5 hg38 chr17 47,324,025 47,430,710 106,686
ENST00000331493.7 hg38 chr17 47,323,955 47,441,312 117,358
ENST00000331493.7 hg19 chr17 45,401,321 45,518,678 117,358
ENST00000517484.5 hg19 chr17 45,401,391 45,508,076 106,686
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