AIPL1 aryl hydrocarbon receptor interacting protein like 1

Information
Symbol
AIPL1
Type
protein-coding
Description
aryl hydrocarbon receptor interacting protein like 1
Entrez Gene ID
23746
Genome
hg19
Position
chr17:6,327,058-6,338,441
Genome
hg38
Position
chr17:6,423,738-6,435,121
MIM
604392 OMIM
HGNC
HGNC:359 HGNC
Ensembl
ENSG00000129221 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 94
Likely pathogenic 0 33
Benign 0 92
Likely benign 0 388
Conflicting classifications of pathogenicity 0 90
not provided 0 14
Uncertain significance 0 432
Ranking
ClinVar
0
0
112
853
24
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 AIPL2
SYNONYM LCA4
MIM 604392 OMIM
HGNC HGNC:359 HGNC
Ensembl ENSG00000129221 Ensembl
AllianceGenome HGNC:359
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000575265.5 hg38 chr17 6,425,305 6,435,121 9,817
ENST00000570466.5 hg38 chr17 6,425,401 6,435,152 9,752
ENST00000576776.5 hg38 chr17 6,425,401 6,435,152 9,752
ENST00000381129.8 hg38 chr17 6,423,738 6,435,121 11,384
ENST00000576307.5 hg38 chr17 6,425,406 6,435,152 9,747
ENST00000250087.9 hg38 chr17 6,423,738 6,435,199 11,462
ENST00000571740.5 hg38 chr17 6,426,189 6,435,120 8,932
ENST00000574506.5 hg38 chr17 6,424,534 6,435,133 10,600
ENST00000381129.8 hg19 chr17 6,327,058 6,338,441 11,384
ENST00000250087.9 hg19 chr17 6,327,058 6,338,519 11,462
ENST00000574506.5 hg19 chr17 6,327,854 6,338,453 10,600
ENST00000575265.5 hg19 chr17 6,328,625 6,338,441 9,817
ENST00000570466.5 hg19 chr17 6,328,721 6,338,472 9,752
ENST00000576776.5 hg19 chr17 6,328,721 6,338,472 9,752
ENST00000576307.5 hg19 chr17 6,328,726 6,338,472 9,747
ENST00000571740.5 hg19 chr17 6,329,509 6,338,440 8,932
Genome browser