PLD3 phospholipase D family member 3

Information
Symbol
PLD3
Type
protein-coding
Description
phospholipase D family member 3
Entrez Gene ID
23646
Genome
hg19
Position
chr19:40,865,157-40,887,480
Genome
hg38
Position
chr19:40,359,250-40,381,573
MIM
615698 OMIM
HGNC
HGNC:17158 HGNC
Ensembl
ENSG00000105223 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 32 0
Likely pathogenic 24 0
Benign 20 44
Likely benign 0 108
Conflicting classifications of pathogenicity 0 6
Uncertain significance 0 184
Ranking
ClinVar
0
0
20
306
2
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 AD19
SYNONYM HU-K4
SYNONYM HUK4
SYNONYM SCA46
MIM 615698 OMIM
HGNC HGNC:17158 HGNC
Ensembl ENSG00000105223 Ensembl
AllianceGenome HGNC:17158
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000409735.9 hg38 chr19 40,348,695 40,378,485 29,791
ENST00000409281.5 hg38 chr19 40,359,642 40,378,483 18,842
ENST00000409419.5 hg38 chr19 40,348,678 40,378,475 29,798
ENST00000700616.1 hg38 chr19 40,348,542 40,381,573 33,032
ENST00000700619.1 hg38 chr19 40,348,658 40,380,728 32,071
ENST00000700620.1 hg38 chr19 40,348,658 40,387,418 38,761
ENST00000700624.1 hg38 chr19 40,348,699 40,381,321 32,623
ENST00000700623.1 hg38 chr19 40,348,697 40,381,321 32,625
ENST00000700621.1 hg38 chr19 40,348,665 40,381,573 32,909
ENST00000409587.5 hg38 chr19 40,348,685 40,378,483 29,799
ENST00000700628.1 hg38 chr19 40,354,618 40,381,573 26,956
ENST00000700626.1 hg38 chr19 40,353,391 40,381,573 28,183
ENST00000700625.1 hg38 chr19 40,348,726 40,381,573 32,848
ENST00000356508.9 hg38 chr19 40,348,700 40,378,483 29,784
ENST00000700633.1 hg38 chr19 40,365,767 40,387,707 21,941
ENST00000700632.1 hg38 chr19 40,365,767 40,381,257 15,491
ENST00000700631.1 hg38 chr19 40,365,767 40,380,073 14,307
ENST00000700630.1 hg38 chr19 40,359,250 40,381,573 22,324
ENST00000700638.1 hg38 chr19 40,365,864 40,379,402 13,539
ENST00000700637.1 hg38 chr19 40,365,864 40,378,488 12,625
ENST00000700634.1 hg38 chr19 40,365,767 40,389,472 23,706
ENST00000356508.9 hg19 chr19 40,854,607 40,884,390 29,784
ENST00000409281.5 hg19 chr19 40,865,549 40,884,390 18,842
ENST00000700616.1 hg19 chr19 40,854,449 40,887,480 33,032
ENST00000409735.9 hg19 chr19 40,854,602 40,884,392 29,791
ENST00000700619.1 hg19 chr19 40,854,565 40,886,635 32,071
ENST00000700620.1 hg19 chr19 40,854,565 40,893,325 38,761
ENST00000700621.1 hg19 chr19 40,854,572 40,887,480 32,909
ENST00000409587.5 hg19 chr19 40,854,592 40,884,390 29,799
ENST00000409419.5 hg19 chr19 40,854,585 40,884,382 29,798
ENST00000700623.1 hg19 chr19 40,854,604 40,887,228 32,625
ENST00000700624.1 hg19 chr19 40,854,606 40,887,228 32,623
ENST00000700625.1 hg19 chr19 40,854,633 40,887,480 32,848
ENST00000700626.1 hg19 chr19 40,859,298 40,887,480 28,183
ENST00000700628.1 hg19 chr19 40,860,525 40,887,480 26,956
ENST00000700630.1 hg19 chr19 40,865,157 40,887,480 22,324
ENST00000700631.1 hg19 chr19 40,871,674 40,885,980 14,307
ENST00000700632.1 hg19 chr19 40,871,674 40,887,164 15,491
ENST00000700633.1 hg19 chr19 40,871,674 40,893,614 21,941
ENST00000700634.1 hg19 chr19 40,871,674 40,895,379 23,706
ENST00000700637.1 hg19 chr19 40,871,771 40,884,395 12,625
ENST00000700638.1 hg19 chr19 40,871,771 40,885,309 13,539
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