MUC5B mucin 5B, oligomeric mucus/gel-forming

Information
Symbol
MUC5B
Type
protein-coding
Description
mucin 5B, oligomeric mucus/gel-forming
Entrez Gene ID
727897
Genome
hg19
Position
chr11:1,244,296-1,283,402
Genome
hg38
Position
chr11:1,223,066-1,262,172
MIM
600770 OMIM
HGNC
HGNC:7516 HGNC
Ensembl
ENSG00000117983 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 388
Likely benign 0 442
Conflicting classifications of pathogenicity 0 34
Uncertain significance 0 1,148
Ranking
ClinVar
0
0
136
1,808
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 MG1
SYNONYM MUC-5B
SYNONYM MUC5
SYNONYM MUC9
MIM 600770 OMIM
HGNC HGNC:7516 HGNC
Ensembl ENSG00000117983 Ensembl
AllianceGenome HGNC:7516
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000529681.5 hg38 chr11 1,223,066 1,262,172 39,107
ENST00000529681.5 hg19 chr11 1,244,296 1,283,402 39,107
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