EFHC2 EF-hand domain containing 2

Information
Symbol
EFHC2
Type
protein-coding
Description
EF-hand domain containing 2
Entrez Gene ID
80258
Genome
hg19
Position
chrX:44,007,118-44,202,918
Genome
hg38
Position
chrX:44,147,872-44,343,672
MIM
300817 OMIM
HGNC
HGNC:26233 HGNC
Ensembl
ENSG00000183690 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 12
Conflicting classifications of pathogenicity 0 4
not provided 7 0
Uncertain significance 0 70
Ranking
ClinVar
0
0
0
82
2
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 MRX74
SYNONYM dJ1158H2.1
MIM 300817 OMIM
HGNC HGNC:26233 HGNC
Ensembl ENSG00000183690 Ensembl
AllianceGenome HGNC:26233
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000420999.2 hg38 chrX 44,147,872 44,343,672 195,801
ENST00000420999.2 hg19 chrX 44,007,118 44,202,918 195,801
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