CNTN1 contactin 1

Information
Symbol
CNTN1
Type
protein-coding
Description
contactin 1
Entrez Gene ID
1272
Genome
hg19
Position
chr12:41,086,241-41,466,217
Genome
hg38
Position
chr12:40,692,439-41,072,415
MIM
600016 OMIM
HGNC
HGNC:2171 HGNC
Ensembl
ENSG00000018236 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 26
Likely pathogenic 0 10
Benign 0 148
Likely benign 0 548
Conflicting classifications of pathogenicity 0 10
Uncertain significance 0 464
Ranking
ClinVar
0
0
140
1,034
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
[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 CMYP12
SYNONYM F3
SYNONYM GP135
SYNONYM MYPCN
MIM 600016 OMIM
HGNC HGNC:2171 HGNC
Ensembl ENSG00000018236 Ensembl
AllianceGenome HGNC:2171
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000348761.2 hg38 chr12 40,908,359 41,070,265 161,907
ENST00000551295.7 hg38 chr12 40,692,439 41,072,415 379,977
ENST00000547849.6 hg38 chr12 40,828,184 40,972,717 144,534
ENST00000547702.5 hg38 chr12 40,692,442 40,972,435 279,994
ENST00000347616.5 hg38 chr12 40,908,354 41,072,406 164,053
ENST00000551295.7 hg19 chr12 41,086,241 41,466,217 379,977
ENST00000547702.5 hg19 chr12 41,086,244 41,366,237 279,994
ENST00000547849.6 hg19 chr12 41,221,986 41,366,519 144,534
ENST00000347616.5 hg19 chr12 41,302,156 41,466,208 164,053
ENST00000348761.2 hg19 chr12 41,302,161 41,464,067 161,907
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