CFC1 cryptic, EGF-CFC family member 1

Information
Symbol
CFC1
Type
protein-coding
Description
cryptic, EGF-CFC family member 1
Entrez Gene ID
55997
Genome
hg19
Position
chr2:131,349,738-131,357,148
Genome
hg38
Position
chr2:130,592,165-130,599,575
MIM
605194 OMIM
HGNC
HGNC:18292 HGNC
Ensembl
ENSG00000136698 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Benign 0 20
Likely benign 0 6
Conflicting classifications of pathogenicity 0 2
not provided 2 0
Uncertain significance 0 20
Ranking
ClinVar
0
0
4
42
4
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 CFC1B
SYNONYM CRYPTIC
SYNONYM DTGA2
SYNONYM HTX2
MIM 605194 OMIM
HGNC HGNC:18292 HGNC
Ensembl ENSG00000136698 Ensembl
AllianceGenome HGNC:18292
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000621673.4 hg38 chr2 130,592,168 130,599,575 7,408
ENST00000615342.4 hg38 chr2 130,592,168 130,599,575 7,408
ENST00000259216.6 hg38 chr2 130,592,165 130,599,575 7,411
ENST00000259216.6 hg19 chr2 131,349,738 131,357,148 7,411
ENST00000615342.4 hg19 chr2 131,349,741 131,357,148 7,408
ENST00000621673.4 hg19 chr2 131,349,741 131,357,148 7,408
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