GMPPA GDP-mannose pyrophosphorylase A

Information
Symbol
GMPPA
Type
protein-coding
Description
GDP-mannose pyrophosphorylase A
Entrez Gene ID
29926
Genome
hg19
Position
chr2:220,363,623-220,371,711
Genome
hg38
Position
chr2:219,498,901-219,506,989
MIM
615495 OMIM
HGNC
HGNC:22923 HGNC
Ensembl
ENSG00000144591 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 22
Likely pathogenic 0 12
Benign 0 40
Likely benign 0 112
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 96
Ranking
ClinVar
0
0
66
186
10
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 AAMR
MIM 615495 OMIM
HGNC HGNC:22923 HGNC
Ensembl ENSG00000144591 Ensembl
AllianceGenome HGNC:22923
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000683752.1 hg38 chr2 219,498,914 219,506,798 7,885
ENST00000373908.5 hg38 chr2 219,498,906 219,506,988 8,083
ENST00000341142.8 hg38 chr2 219,498,915 219,506,798 7,884
ENST00000373917.7 hg38 chr2 219,498,888 219,506,935 8,048
ENST00000682488.1 hg38 chr2 219,499,954 219,506,951 6,998
ENST00000313597.10 hg38 chr2 219,498,891 219,506,989 8,099
ENST00000358215.8 hg38 chr2 219,498,901 219,506,989 8,089
ENST00000622191.2 hg38 chr2 219,498,907 219,506,964 8,058
ENST00000313597.10 hg19 chr2 220,363,613 220,371,711 8,099
ENST00000683752.1 hg19 chr2 220,363,636 220,371,520 7,885
ENST00000358215.8 hg19 chr2 220,363,623 220,371,711 8,089
ENST00000373917.7 hg19 chr2 220,363,610 220,371,657 8,048
ENST00000373908.5 hg19 chr2 220,363,628 220,371,710 8,083
ENST00000622191.2 hg19 chr2 220,363,629 220,371,686 8,058
ENST00000341142.8 hg19 chr2 220,363,637 220,371,520 7,884
ENST00000682488.1 hg19 chr2 220,364,676 220,371,673 6,998
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