PNMA5 PNMA family member 5

Information
Symbol
PNMA5
Type
protein-coding
Description
PNMA family member 5
Entrez Gene ID
114824
Genome
hg19
Position
chrX:152,157,368-152,160,758
Genome
hg38
Position
chrX:152,988,824-152,992,214
MIM
300916 OMIM
HGNC
HGNC:18743 HGNC
Ensembl
ENSG00000198883 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 8
Likely benign 0 2
not provided 6 0
Uncertain significance 0 16
Ranking
ClinVar
0
0
0
26
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
MIM 300916 OMIM
HGNC HGNC:18743 HGNC
Ensembl ENSG00000198883 Ensembl
AllianceGenome HGNC:18743
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000535214.6 hg38 chrX 152,988,824 152,994,116 5,293
ENST00000439251.3 hg38 chrX 152,988,825 152,992,217 3,393
ENST00000361887.5 hg38 chrX 152,988,824 152,992,214 3,391
ENST00000452693.5 hg38 chrX 152,988,825 152,992,217 3,393
ENST00000361887.5 hg19 chrX 152,157,368 152,160,758 3,391
ENST00000535214.6 hg19 chrX 152,157,368 152,162,660 5,293
ENST00000439251.3 hg19 chrX 152,157,369 152,160,761 3,393
ENST00000452693.5 hg19 chrX 152,157,369 152,160,761 3,393
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