AMER3 APC membrane recruitment protein 3

Information
Symbol
AMER3
Type
protein-coding
Description
APC membrane recruitment protein 3
Entrez Gene ID
205147
Genome
hg19
Position
chr2:131,513,113-131,525,707
Genome
hg38
Position
chr2:130,755,540-130,768,134
HGNC
HGNC:26771 HGNC
Ensembl
ENSG00000178171 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 2
Likely benign 0 18
not provided 3 0
Uncertain significance 0 122
Ranking
ClinVar
0
0
0
140
2
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 FAM123C
HGNC HGNC:26771 HGNC
Ensembl ENSG00000178171 Ensembl
AllianceGenome HGNC:26771
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000431758.2 hg38 chr2 130,755,651 130,764,658 9,008
ENST00000321420.5 hg38 chr2 130,755,540 130,768,134 12,595
ENST00000458606.6 hg38 chr2 130,756,291 130,764,658 8,368
ENST00000321420.5 hg19 chr2 131,513,113 131,525,707 12,595
ENST00000431758.2 hg19 chr2 131,513,224 131,522,231 9,008
ENST00000458606.6 hg19 chr2 131,513,864 131,522,231 8,368
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