EFCAB10 EF-hand calcium binding domain 10

Information
Symbol
EFCAB10
Type
protein-coding
Description
EF-hand calcium binding domain 10
Entrez Gene ID
100130771
Genome
hg19
Position
chr7:105,205,680-105,221,943
Genome
hg38
Position
chr7:105,565,233-105,581,496
HGNC
HGNC:34531 HGNC
Ensembl
ENSG00000185055 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Likely pathogenic 0 2
Benign 0 18
Likely benign 1 178
Conflicting classifications of pathogenicity 0 22
not provided 4 0
Uncertain significance 2 384
Ranking
ClinVar
0
0
196
388
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
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
HGNC HGNC:34531 HGNC
Ensembl ENSG00000185055 Ensembl
AllianceGenome HGNC:34531
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000485614.5 hg38 chr7 105,565,233 105,581,496 16,264
ENST00000460135.1 hg38 chr7 105,567,195 105,581,690 14,496
ENST00000486180.5 hg38 chr7 105,566,323 105,581,486 15,164
ENST00000490493.1 hg38 chr7 105,567,102 105,600,875 33,774
ENST00000480514.6 hg38 chr7 105,565,124 105,581,493 16,370
ENST00000469099.5 hg38 chr7 105,565,120 105,591,520 26,401
ENST00000469099.5 hg19 chr7 105,205,567 105,231,967 26,401
ENST00000480514.6 hg19 chr7 105,205,571 105,221,940 16,370
ENST00000485614.5 hg19 chr7 105,205,680 105,221,943 16,264
ENST00000486180.5 hg19 chr7 105,206,770 105,221,933 15,164
ENST00000490493.1 hg19 chr7 105,207,549 105,241,322 33,774
ENST00000460135.1 hg19 chr7 105,207,642 105,222,137 14,496
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