TMEM126A transmembrane protein 126A

Information
Symbol
TMEM126A
Type
protein-coding
Description
transmembrane protein 126A
Entrez Gene ID
84233
Genome
hg19
Position
chr11:85,359,011-85,367,586
Genome
hg38
Position
chr11:85,647,967-85,656,542
MIM
612988 OMIM
HGNC
HGNC:25382 HGNC
Ensembl
ENSG00000171202 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Likely pathogenic 0 4
Benign 0 30
Likely benign 0 104
Conflicting classifications of pathogenicity 0 8
not provided 1 0
Uncertain significance 0 156
Ranking
ClinVar
0
0
50
240
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 OPA7
MIM 612988 OMIM
HGNC HGNC:25382 HGNC
Ensembl ENSG00000171202 Ensembl
AllianceGenome HGNC:25382
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000532180.1 hg38 chr11 85,648,021 85,656,543 8,523
ENST00000304511.7 hg38 chr11 85,647,967 85,656,542 8,576
ENST00000528105.5 hg38 chr11 85,647,977 85,656,542 8,566
ENST00000304511.7 hg19 chr11 85,359,011 85,367,586 8,576
ENST00000528105.5 hg19 chr11 85,359,021 85,367,586 8,566
ENST00000532180.1 hg19 chr11 85,359,065 85,367,587 8,523
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