CFDP1 craniofacial development protein 1

Information
Symbol
CFDP1
Type
protein-coding
Description
craniofacial development protein 1
Entrez Gene ID
10428
Genome
hg19
Position
chr16:75,327,608-75,467,401
Genome
hg38
Position
chr16:75,293,710-75,433,503
MIM
608108 OMIM
HGNC
HGNC:1873 HGNC
Ensembl
ENSG00000153774 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 14
Uncertain significance 0 32
Ranking
ClinVar
0
0
0
46
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
[No Data.]
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 BCNT
SYNONYM BUCENTAUR
SYNONYM CENP-29
SYNONYM CP27
SYNONYM SWC5
SYNONYM Yeti
SYNONYM p97
MIM 608108 OMIM
HGNC HGNC:1873 HGNC
Ensembl ENSG00000153774 Ensembl
AllianceGenome HGNC:1873
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000283882.4 hg38 chr16 75,293,710 75,433,503 139,794
ENST00000283882.4 hg19 chr16 75,327,608 75,467,401 139,794
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