PNMT phenylethanolamine N-methyltransferase

Information
Symbol
PNMT
Type
protein-coding
Description
phenylethanolamine N-methyltransferase
Entrez Gene ID
5409
Genome
hg19
Position
chr17:37,824,706-37,826,728
Genome
hg38
Position
chr17:39,668,453-39,670,475
MIM
171190 OMIM
HGNC
HGNC:9160 HGNC
Ensembl
ENSG00000141744 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 2
Uncertain significance 0 38
Ranking
ClinVar
0
0
0
44
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 PENT
SYNONYM PNMTase
MIM 171190 OMIM
HGNC HGNC:9160 HGNC
Ensembl ENSG00000141744 Ensembl
AllianceGenome HGNC:9160
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000269582.3 hg38 chr17 39,668,453 39,670,475 2,023
ENST00000394246.1 hg38 chr17 39,667,981 39,670,473 2,493
ENST00000581428.1 hg38 chr17 39,668,463 39,670,090 1,628
ENST00000394246.1 hg19 chr17 37,824,234 37,826,726 2,493
ENST00000269582.3 hg19 chr17 37,824,706 37,826,728 2,023
ENST00000581428.1 hg19 chr17 37,824,716 37,826,343 1,628
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