FAM47C family with sequence similarity 47 member C

Information
Symbol
FAM47C
Type
protein-coding
Description
family with sequence similarity 47 member C
Entrez Gene ID
442444
Genome
hg19
Position
chrX:37,026,439-37,029,737
Genome
hg38
Position
chrX:37,008,366-37,011,664
MIM
301067 OMIM
HGNC
HGNC:25301 HGNC
Ensembl
ENSG00000198173 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 18
Conflicting classifications of pathogenicity 0 4
not provided 6 0
Uncertain significance 0 122
Ranking
ClinVar
0
0
0
140
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 :
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
MIM 301067 OMIM
HGNC HGNC:25301 HGNC
Ensembl ENSG00000198173 Ensembl
AllianceGenome HGNC:25301
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000358047.5 hg38 chrX 37,008,366 37,011,664 3,299
ENST00000358047.5 hg19 chrX 37,026,439 37,029,737 3,299
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