CRTAP cartilage associated protein

Information
Symbol
CRTAP
Type
protein-coding
Description
cartilage associated protein
Entrez Gene ID
10491
Genome
hg19
Position
chr3:33,155,506-33,189,265
Genome
hg38
Position
chr3:33,114,014-33,147,773
MIM
605497 OMIM
HGNC
HGNC:2379 HGNC
Ensembl
ENSG00000170275 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 92
Likely pathogenic 0 32
Benign 0 104
Likely benign 0 444
Conflicting classifications of pathogenicity 0 30
Uncertain significance 0 552
Ranking
ClinVar
0
0
134
1,062
16
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 CASP
SYNONYM LEPREL3
SYNONYM OI7
SYNONYM P3H5
MIM 605497 OMIM
HGNC HGNC:2379 HGNC
Ensembl ENSG00000170275 Ensembl
AllianceGenome HGNC:2379
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000320954.11 hg38 chr3 33,114,014 33,147,773 33,760
ENST00000449224.1 hg38 chr3 33,114,054 33,143,158 29,105
ENST00000320954.11 hg19 chr3 33,155,506 33,189,265 33,760
ENST00000449224.1 hg19 chr3 33,155,546 33,184,650 29,105
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