COL10A1 collagen type X alpha 1 chain

Information
Symbol
COL10A1
Type
protein-coding
Description
collagen type X alpha 1 chain
Entrez Gene ID
1300
Genome
hg19
Position
chr6:116,440,189-116,447,063
Genome
hg38
Position
chr6:116,119,026-116,125,900
MIM
120110 OMIM
HGNC
HGNC:2185 HGNC
Ensembl
ENSG00000123500 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 10 66
Likely pathogenic 0 68
Benign 18 94
Likely benign 0 162
Conflicting classifications of pathogenicity 0 38
not provided 0 2
Uncertain significance 0 438
Ranking
ClinVar
0
0
112
664
22
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
MIM 120110 OMIM
HGNC HGNC:2185 HGNC
Ensembl ENSG00000123500 Ensembl
AllianceGenome HGNC:2185
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000651968.1 hg38 chr6 116,118,909 116,126,132 7,224
ENST00000327673.4 hg38 chr6 116,119,026 116,125,900 6,875
ENST00000243222.8 hg38 chr6 116,118,923 116,126,133 7,211
ENST00000651968.1 hg19 chr6 116,440,072 116,447,295 7,224
ENST00000243222.8 hg19 chr6 116,440,086 116,447,296 7,211
ENST00000327673.4 hg19 chr6 116,440,189 116,447,063 6,875
Genome browser