PNMA3 PNMA family member 3

Information
Symbol
PNMA3
Type
protein-coding
Description
PNMA family member 3
Entrez Gene ID
29944
Genome
hg19
Position
chrX:152,224,827-152,228,822
Genome
hg38
Position
chrX:153,056,470-153,060,462
MIM
300675 OMIM
HGNC
HGNC:18742 HGNC
Ensembl
ENSG00000183837 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
not provided 6 0
Uncertain significance 0 12
Ranking
ClinVar
0
0
0
14
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
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 MA3
SYNONYM MA5
MIM 300675 OMIM
HGNC HGNC:18742 HGNC
Ensembl ENSG00000183837 Ensembl
AllianceGenome HGNC:18742
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000593810.3 hg38 chrX 153,056,470 153,060,462 3,993
ENST00000619635.1 hg38 chrX 153,056,409 153,060,467 4,059
ENST00000619635.1 hg19 chrX 152,224,766 152,228,827 4,062
ENST00000593810.3 hg19 chrX 152,224,827 152,228,822 3,996
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