AVIL advillin

Information
Symbol
AVIL
Type
protein-coding
Description
advillin
Entrez Gene ID
10677
Genome
hg19
Position
chr12:58,191,163-58,212,517
Genome
hg38
Position
chr12:57,797,380-57,818,734
MIM
613397 OMIM
HGNC
HGNC:14188 HGNC
Ensembl
ENSG00000135407 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely pathogenic 0 4
Benign 0 40
Likely benign 0 32
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 130
Ranking
ClinVar
0
0
10
196
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
[No Data.]
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 ADVIL
SYNONYM DOC6
SYNONYM NPHS21
SYNONYM p92
MIM 613397 OMIM
HGNC HGNC:14188 HGNC
Ensembl ENSG00000135407 Ensembl
AllianceGenome HGNC:14188
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000549994.2 hg38 chr12 57,797,380 57,818,734 21,355
ENST00000257861.7 hg38 chr12 57,797,882 57,816,471 18,590
ENST00000549994.2 hg19 chr12 58,191,163 58,212,517 21,355
ENST00000257861.7 hg19 chr12 58,191,665 58,210,254 18,590
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