TMEM63A transmembrane protein 63A

Information
Symbol
TMEM63A
Type
protein-coding
Description
transmembrane protein 63A
Entrez Gene ID
9725
Genome
hg19
Position
chr1:226,033,237-226,070,080
Genome
hg38
Position
chr1:225,845,536-225,882,380
MIM
618685 OMIM
HGNC
HGNC:29118 HGNC
Ensembl
ENSG00000196187 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Benign 0 14
Likely benign 0 42
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 110
Ranking
ClinVar
0
0
12
158
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
[No Data.]
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 HLD19
SYNONYM KIAA0792
MIM 618685 OMIM
HGNC HGNC:29118 HGNC
Ensembl ENSG00000196187 Ensembl
AllianceGenome HGNC:29118
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000366835.8 hg38 chr1 225,845,536 225,882,380 36,845
ENST00000537914.5 hg38 chr1 225,860,724 225,866,748 6,025
ENST00000366835.8 hg19 chr1 226,033,237 226,070,080 36,844
ENST00000537914.5 hg19 chr1 226,048,424 226,054,448 6,025
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