IZUMO1 izumo sperm-oocyte fusion 1

Information
Symbol
IZUMO1
Type
protein-coding
Description
izumo sperm-oocyte fusion 1
Entrez Gene ID
284359
Genome
hg19
Position
chr19:49,244,109-49,250,166
Genome
hg38
Position
chr19:48,740,852-48,746,909
MIM
609278 OMIM
HGNC
HGNC:28539 HGNC
Ensembl
ENSG00000182264 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 26
Ranking
ClinVar
0
0
0
28
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 IZUMO
SYNONYM OBF
MIM 609278 OMIM
HGNC HGNC:28539 HGNC
Ensembl ENSG00000182264 Ensembl
AllianceGenome HGNC:28539
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000332955.7 hg38 chr19 48,740,852 48,746,909 6,058
ENST00000332955.7 hg19 chr19 49,244,109 49,250,166 6,058
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