AMER1 APC membrane recruitment protein 1

Information
Symbol
AMER1
Type
protein-coding
Description
APC membrane recruitment protein 1
Entrez Gene ID
139285
Genome
hg19
Position
chrX:63,404,997-63,425,588
Genome
hg38
Position
chrX:64,185,117-64,205,708
MIM
300647 OMIM
HGNC
HGNC:26837 HGNC
Ensembl
ENSG00000184675 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 12 58
Likely pathogenic 2 16
Benign 0 186
Likely benign 0 236
Conflicting classifications of pathogenicity 0 16
not provided 28 4
Uncertain significance 3 368
Ranking
ClinVar
0
0
78
724
18
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 FAM123B
SYNONYM OSCS
SYNONYM WTX
MIM 300647 OMIM
HGNC HGNC:26837 HGNC
Ensembl ENSG00000184675 Ensembl
AllianceGenome HGNC:26837
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000374869.8 hg38 chrX 64,185,117 64,205,708 20,592
ENST00000374869.8 hg19 chrX 63,404,997 63,425,588 20,592
KeyValue
strand-
start63,404,996
VogelsteinTSG
Gene SymbolAMER1
Entrez GeneId139,285
Chr BandXq11.2
end63,425,623
chrchrX
NameAPC membrane recruitment protein 1
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