HMCN1 hemicentin 1

Information
Symbol
HMCN1
Type
protein-coding
Description
hemicentin 1
Entrez Gene ID
83872
Genome
hg19
Position
chr1:185,703,523-186,160,081
Genome
hg38
Position
chr1:185,734,391-186,190,949
MIM
608548 OMIM
HGNC
HGNC:19194 HGNC
Ensembl
ENSG00000143341 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 0 332
Likely benign 0 1,976
Conflicting classifications of pathogenicity 0 236
Uncertain significance 2 3,364
Ranking
ClinVar
0
0
752
4,808
14
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 ARMD1
SYNONYM FBLN6
SYNONYM FIBL-6
SYNONYM FIBL6
MIM 608548 OMIM
HGNC HGNC:19194 HGNC
Ensembl ENSG00000143341 Ensembl
AllianceGenome HGNC:19194
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000271588.9 hg38 chr1 185,734,391 186,190,949 456,559
ENST00000271588.9 hg19 chr1 185,703,523 186,160,081 456,559
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