DMAC2 distal membrane arm assembly component 2

Information
Symbol
DMAC2
Type
protein-coding
Description
distal membrane arm assembly component 2
Entrez Gene ID
55101
Genome
hg19
Position
chr19:41,937,893-41,945,444
Genome
hg38
Position
chr19:41,431,988-41,439,539
MIM
617262 OMIM
HGNC
HGNC:25496 HGNC
Ensembl
ENSG00000105341 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 16
not provided 0 2
Uncertain significance 0 40
Ranking
ClinVar
0
0
0
56
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 :
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 ATP5SL
MIM 617262 OMIM
HGNC HGNC:25496 HGNC
Ensembl ENSG00000105341 Ensembl
AllianceGenome HGNC:25496
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000590641.6 hg38 chr19 41,432,846 41,439,576 6,731
ENST00000589970.5 hg38 chr19 41,431,872 41,439,908 8,037
ENST00000301183.15 hg38 chr19 41,431,756 41,439,539 7,784
ENST00000417807.7 hg38 chr19 41,431,988 41,439,539 7,552
ENST00000221943.14 hg38 chr19 41,431,318 41,439,912 8,595
ENST00000597457.5 hg38 chr19 41,432,929 41,439,905 6,977
ENST00000595425.5 hg38 chr19 41,433,224 41,439,908 6,685
ENST00000592922.6 hg38 chr19 41,431,339 41,439,936 8,598
ENST00000438807.7 hg38 chr19 41,431,318 41,439,910 8,593
ENST00000438807.7 hg19 chr19 41,937,223 41,945,815 8,593
ENST00000221943.14 hg19 chr19 41,937,223 41,945,817 8,595
ENST00000592922.6 hg19 chr19 41,937,244 41,945,841 8,598
ENST00000301183.15 hg19 chr19 41,937,661 41,945,444 7,784
ENST00000589970.5 hg19 chr19 41,937,777 41,945,813 8,037
ENST00000417807.7 hg19 chr19 41,937,893 41,945,444 7,552
ENST00000590641.6 hg19 chr19 41,938,751 41,945,481 6,731
ENST00000597457.5 hg19 chr19 41,938,834 41,945,810 6,977
ENST00000595425.5 hg19 chr19 41,939,129 41,945,813 6,685
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