MAMLD1 mastermind like domain containing 1

Information
Symbol
MAMLD1
Type
protein-coding
Description
mastermind like domain containing 1
Entrez Gene ID
10046
Genome
hg19
Position
chrX:149,530,480-149,682,430
Genome
hg38
Position
chrX:150,362,213-150,514,160
MIM
300120 OMIM
HGNC
HGNC:2568 HGNC
Ensembl
ENSG00000013619 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 12 12
Benign 0 58
Likely benign 0 58
Conflicting classifications of pathogenicity 0 6
not provided 6 0
Uncertain significance 0 66
Ranking
ClinVar
0
0
26
138
14
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 CG1
SYNONYM CXorf6
SYNONYM F18
SYNONYM HYSP2
MIM 300120 OMIM
HGNC HGNC:2568 HGNC
Ensembl ENSG00000013619 Ensembl
AllianceGenome HGNC:2568
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000262858.8 hg38 chrX 150,361,572 150,514,130 152,559
ENST00000683696.1 hg38 chrX 150,363,287 150,514,159 150,873
ENST00000432680.7 hg38 chrX 150,363,317 150,514,173 150,857
ENST00000682253.1 hg38 chrX 150,362,318 150,514,150 151,833
ENST00000683453.1 hg38 chrX 150,362,010 150,514,153 152,144
ENST00000370401.7 hg38 chrX 150,363,317 150,514,173 150,857
ENST00000426613.5 hg38 chrX 150,362,041 150,514,178 152,138
ENST00000682016.1 hg38 chrX 150,362,213 150,514,160 151,948
ENST00000262858.8 hg19 chrX 149,529,839 149,682,400 152,562
ENST00000683453.1 hg19 chrX 149,530,277 149,682,423 152,147
ENST00000426613.5 hg19 chrX 149,530,308 149,682,448 152,141
ENST00000682016.1 hg19 chrX 149,530,480 149,682,430 151,951
ENST00000682253.1 hg19 chrX 149,530,585 149,682,420 151,836
ENST00000683696.1 hg19 chrX 149,531,554 149,682,429 150,876
ENST00000370401.7 hg19 chrX 149,531,584 149,682,443 150,860
ENST00000432680.7 hg19 chrX 149,531,584 149,682,443 150,860
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