COL5A3 collagen type V alpha 3 chain

Information
Symbol
COL5A3
Type
protein-coding
Description
collagen type V alpha 3 chain
Entrez Gene ID
50509
Genome
hg19
Position
chr19:10,070,237-10,121,180
Genome
hg38
Position
chr19:9,959,561-10,010,504
MIM
120216 OMIM
HGNC
HGNC:14864 HGNC
Ensembl
ENSG00000080573 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 8
Likely benign 0 24
Uncertain significance 0 224
Ranking
ClinVar
0
0
0
254
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
MIM 120216 OMIM
HGNC HGNC:14864 HGNC
Ensembl ENSG00000080573 Ensembl
AllianceGenome HGNC:14864
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000264828.4 hg38 chr19 9,959,561 10,010,504 50,944
ENST00000264828.4 hg19 chr19 10,070,237 10,121,180 50,944
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