FAM47A family with sequence similarity 47 member A

Information
Symbol
FAM47A
Type
protein-coding
Description
family with sequence similarity 47 member A
Entrez Gene ID
158724
Genome
hg19
Position
chrX:34,147,869-34,150,431
Genome
hg38
Position
chrX:34,129,752-34,132,314
HGNC
HGNC:29962 HGNC
Ensembl
ENSG00000185448 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 14
Likely benign 0 30
Conflicting classifications of pathogenicity 0 4
not provided 6 0
Uncertain significance 0 78
Ranking
ClinVar
0
0
6
104
10
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
HGNC HGNC:29962 HGNC
Ensembl ENSG00000185448 Ensembl
AllianceGenome HGNC:29962
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000346193.5 hg38 chrX 34,129,752 34,132,314 2,563
ENST00000346193.5 hg19 chrX 34,147,869 34,150,431 2,563
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