MFAP5 microfibril associated protein 5

Information
Symbol
MFAP5
Type
protein-coding
Description
microfibril associated protein 5
Entrez Gene ID
8076
Genome
hg19
Position
chr12:8,798,539-8,815,422
Genome
hg38
Position
chr12:8,645,943-8,662,826
MIM
601103 OMIM
HGNC
HGNC:29673 HGNC
Ensembl
ENSG00000197614 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 0 8
Benign 0 88
Likely benign 0 162
Conflicting classifications of pathogenicity 0 24
Uncertain significance 0 218
Ranking
ClinVar
0
0
104
364
0
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 AAT9
SYNONYM MAGP-2
SYNONYM MAGP2
SYNONYM MFAP-5
SYNONYM MP25
MIM 601103 OMIM
HGNC HGNC:29673 HGNC
Ensembl ENSG00000197614 Ensembl
AllianceGenome HGNC:29673
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000535336.5 hg38 chr12 8,647,956 8,662,725 14,770
ENST00000433590.6 hg38 chr12 8,646,490 8,662,884 16,395
ENST00000396549.6 hg38 chr12 8,647,590 8,662,826 15,237
ENST00000543369.5 hg38 chr12 8,647,638 8,662,687 15,050
ENST00000359478.7 hg38 chr12 8,645,943 8,662,826 16,884
ENST00000540087.5 hg38 chr12 8,648,091 8,662,104 14,014
ENST00000359478.7 hg19 chr12 8,798,539 8,815,422 16,884
ENST00000433590.6 hg19 chr12 8,799,086 8,815,480 16,395
ENST00000396549.6 hg19 chr12 8,800,186 8,815,422 15,237
ENST00000543369.5 hg19 chr12 8,800,234 8,815,283 15,050
ENST00000535336.5 hg19 chr12 8,800,552 8,815,321 14,770
ENST00000540087.5 hg19 chr12 8,800,687 8,814,700 14,014
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