COL1A1 collagen type I alpha 1 chain

Information
Symbol
COL1A1
Type
protein-coding
Description
collagen type I alpha 1 chain
Entrez Gene ID
1277
Genome
hg19
Position
chr17:48,261,462-48,278,992
Genome
hg38
Position
chr17:50,184,101-50,201,631
MIM
120150 OMIM
HGNC
HGNC:2197 HGNC
Ensembl
ENSG00000108821 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 37 1,710
Likely pathogenic 4 608
Benign 12 334
Likely benign 0 1,614
Conflicting classifications of pathogenicity 0 454
Uncertain significance 0 1,128
Ranking
ClinVar
0
0
1,078
3,842
212
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 CAFYD
SYNONYM EDSARTH1
SYNONYM EDSC
SYNONYM OI1
SYNONYM OI2
SYNONYM OI3
SYNONYM OI4
MIM 120150 OMIM
HGNC HGNC:2197 HGNC
Ensembl ENSG00000108821 Ensembl
AllianceGenome HGNC:2197
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000225964.10 hg38 chr17 50,184,101 50,201,631 17,531
ENST00000225964.10 hg19 chr17 48,261,462 48,278,992 17,531
KeyValue
strand-
start48,261,456
Gene SymbolCOL1A1
Entrez GeneId1,277
Chr Band17q21.31-q22
end48,278,999
chrchr17
Namecollagen, type I, alpha 1
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