ECHDC1 ethylmalonyl-CoA decarboxylase 1

Information
Symbol
ECHDC1
Type
protein-coding
Description
ethylmalonyl-CoA decarboxylase 1
Entrez Gene ID
55862
Genome
hg19
Position
chr6:127,609,857-127,664,020
Genome
hg38
Position
chr6:127,288,712-127,342,875
MIM
612136 OMIM
HGNC
HGNC:21489 HGNC
Ensembl
ENSG00000093144 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 4
Uncertain significance 0 30
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
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
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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 HEL-S-76
SYNONYM MMCD
SYNONYM dJ351K20.2
MIM 612136 OMIM
HGNC HGNC:21489 HGNC
Ensembl ENSG00000093144 Ensembl
AllianceGenome HGNC:21489
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000368291.6 hg38 chr6 127,289,634 127,343,599 53,966
ENST00000528402.5 hg38 chr6 127,289,267 127,343,549 54,283
ENST00000454859.8 hg38 chr6 127,288,712 127,343,609 54,898
ENST00000430841.6 hg38 chr6 127,289,869 127,343,398 53,530
ENST00000454591.6 hg38 chr6 127,289,267 127,343,562 54,296
ENST00000436638.6 hg38 chr6 127,289,869 127,331,028 41,160
ENST00000474289.6 hg38 chr6 127,288,720 127,343,346 54,627
ENST00000531967.5 hg38 chr6 127,288,712 127,342,875 54,164
ENST00000368289.6 hg38 chr6 127,289,877 127,343,359 53,483
ENST00000368289.6 hg19 chr6 127,611,022 127,664,504 53,483
ENST00000531967.5 hg19 chr6 127,609,857 127,664,020 54,164
ENST00000368291.6 hg19 chr6 127,610,779 127,664,744 53,966
ENST00000430841.6 hg19 chr6 127,611,014 127,664,543 53,530
ENST00000436638.6 hg19 chr6 127,611,014 127,652,173 41,160
ENST00000454591.6 hg19 chr6 127,610,412 127,664,707 54,296
ENST00000474289.6 hg19 chr6 127,609,865 127,664,491 54,627
ENST00000528402.5 hg19 chr6 127,610,412 127,664,694 54,283
ENST00000454859.8 hg19 chr6 127,609,857 127,664,754 54,898
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