VANGL1 VANGL planar cell polarity protein 1

Information
Symbol
VANGL1
Type
protein-coding
Description
VANGL planar cell polarity protein 1
Entrez Gene ID
81839
Genome
hg19
Position
chr1:116,184,591-116,240,842
Genome
hg38
Position
chr1:115,641,970-115,698,221
MIM
610132 OMIM
HGNC
HGNC:15512 HGNC
Ensembl
ENSG00000173218 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 16 148
Likely benign 0 98
Conflicting classifications of pathogenicity 0 64
risk factor 0 2
Uncertain significance 0 258
Uncertain significance; risk factor 0 2
Ranking
ClinVar
0
0
28
398
16
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 KITENIN
SYNONYM LPP2
SYNONYM STB2
SYNONYM STBM2
MIM 610132 OMIM
HGNC HGNC:15512 HGNC
Ensembl ENSG00000173218 Ensembl
AllianceGenome HGNC:15512
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000310260.7 hg38 chr1 115,642,629 115,691,854 49,226
ENST00000369509.1 hg38 chr1 115,651,402 115,691,854 40,453
ENST00000355485.7 hg38 chr1 115,641,970 115,698,221 56,252
ENST00000369510.8 hg38 chr1 115,641,991 115,698,224 56,234
ENST00000355485.7 hg19 chr1 116,184,591 116,240,842 56,252
ENST00000369510.8 hg19 chr1 116,184,612 116,240,845 56,234
ENST00000310260.7 hg19 chr1 116,185,250 116,234,475 49,226
ENST00000369509.1 hg19 chr1 116,194,023 116,234,475 40,453
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