APH1A aph-1 homolog A, gamma-secretase subunit

Information
Symbol
APH1A
Type
protein-coding
Description
aph-1 homolog A, gamma-secretase subunit
Entrez Gene ID
51107
Genome
hg19
Position
chr1:150,237,804-150,241,416
Genome
hg38
Position
chr1:150,265,404-150,269,016
MIM
607629 OMIM
HGNC
HGNC:29509 HGNC
Ensembl
ENSG00000117362 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 6 0
Uncertain significance 0 18
Ranking
ClinVar
0
0
0
18
0
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 :
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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 6530402N02Rik
SYNONYM APH-1
SYNONYM APH-1A
SYNONYM CGI-78
MIM 607629 OMIM
HGNC HGNC:29509 HGNC
Ensembl ENSG00000117362 Ensembl
AllianceGenome HGNC:29509
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000369109.8 hg38 chr1 150,265,404 150,269,016 3,613
ENST00000414276.6 hg38 chr1 150,265,399 150,269,209 3,811
ENST00000360244.8 hg38 chr1 150,265,406 150,269,303 3,898
ENST00000414276.6 hg19 chr1 150,237,799 150,241,609 3,811
ENST00000369109.8 hg19 chr1 150,237,804 150,241,416 3,613
ENST00000360244.8 hg19 chr1 150,237,806 150,241,703 3,898
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