CRNKL1 crooked neck pre-mRNA splicing factor 1

Information
Symbol
CRNKL1
Type
protein-coding
Description
crooked neck pre-mRNA splicing factor 1
Entrez Gene ID
51340
Genome
hg19
Position
chr20:20,015,012-20,036,690
Genome
hg38
Position
chr20:20,034,368-20,056,046
MIM
610952 OMIM
HGNC
HGNC:15762 HGNC
Ensembl
ENSG00000101343 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 2
Likely benign 0 2
Uncertain significance 0 66
Ranking
ClinVar
0
0
0
68
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 :
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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 CLF
SYNONYM CRN
SYNONYM Clf1
SYNONYM HCRN
SYNONYM MSTP021
SYNONYM SYF3
MIM 610952 OMIM
HGNC HGNC:15762 HGNC
Ensembl ENSG00000101343 Ensembl
AllianceGenome HGNC:15762
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000377327.8 hg38 chr20 20,034,368 20,056,046 21,679
ENST00000377340.6 hg38 chr20 20,034,368 20,056,046 21,679
ENST00000536226.2 hg38 chr20 20,034,368 20,052,466 18,099
ENST00000536226.2 hg19 chr20 20,015,012 20,033,110 18,099
ENST00000377327.8 hg19 chr20 20,015,012 20,036,690 21,679
ENST00000377340.6 hg19 chr20 20,015,012 20,036,690 21,679
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