PITPNM3 PITPNM family member 3

Information
Symbol
PITPNM3
Type
protein-coding
Description
PITPNM family member 3
Entrez Gene ID
83394
Genome
hg19
Position
chr17:6,354,583-6,459,875
Genome
hg38
Position
chr17:6,451,263-6,556,555
MIM
608921 OMIM
HGNC
HGNC:21043 HGNC
Ensembl
ENSG00000091622 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely pathogenic 0 2
Benign 16 194
Likely benign 0 628
Conflicting classifications of pathogenicity 0 54
Uncertain significance 0 874
Ranking
ClinVar
0
0
168
1,498
4
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 ACKR6
SYNONYM CORD5
SYNONYM NIR1
SYNONYM RDGBA3
MIM 608921 OMIM
HGNC HGNC:21043 HGNC
Ensembl ENSG00000091622 Ensembl
AllianceGenome HGNC:21043
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000421306.7 hg38 chr17 6,451,264 6,556,460 105,197
ENST00000262483.13 hg38 chr17 6,451,263 6,556,555 105,293
ENST00000262483.13 hg19 chr17 6,354,583 6,459,875 105,293
ENST00000421306.7 hg19 chr17 6,354,584 6,459,780 105,197
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