ITM2A integral membrane protein 2A

Information
Symbol
ITM2A
Type
protein-coding
Description
integral membrane protein 2A
Entrez Gene ID
9452
Genome
hg19
Position
chrX:78,615,881-78,622,831
Genome
hg38
Position
chrX:79,360,384-79,367,334
MIM
300222 OMIM
HGNC
HGNC:6173 HGNC
Ensembl
ENSG00000078596 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 2
not provided 6 0
Uncertain significance 0 28
Ranking
ClinVar
0
0
0
34
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
SYNONYM BRICD2A
SYNONYM E25A
MIM 300222 OMIM
HGNC HGNC:6173 HGNC
Ensembl ENSG00000078596 Ensembl
AllianceGenome HGNC:6173
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000434584.2 hg38 chrX 79,360,388 79,367,552 7,165
ENST00000373298.7 hg38 chrX 79,360,384 79,367,334 6,951
ENST00000373298.7 hg19 chrX 78,615,881 78,622,831 6,951
ENST00000434584.2 hg19 chrX 78,615,885 78,623,049 7,165
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