MKS1 MKS transition zone complex subunit 1

Information
Symbol
MKS1
Type
protein-coding
Description
MKS transition zone complex subunit 1
Entrez Gene ID
54903
Genome
hg19
Position
chr17:56,282,802-56,296,616
Genome
hg38
Position
chr17:58,205,441-58,219,255
MIM
609883 OMIM
HGNC
HGNC:7121 HGNC
Ensembl
ENSG00000011143 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 188
Likely pathogenic 0 186
Benign 0 52
Likely benign 0 844
Conflicting classifications of pathogenicity 0 154
Uncertain significance 0 620
Ranking
ClinVar
0
0
360
1,444
18
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 BBS13
SYNONYM JBTS28
SYNONYM MES
SYNONYM MKS
SYNONYM POC12
MIM 609883 OMIM
HGNC HGNC:7121 HGNC
Ensembl ENSG00000011143 Ensembl
AllianceGenome HGNC:7121
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000678463.1 hg38 chr17 58,205,441 58,219,255 13,815
ENST00000313863.11 hg38 chr17 58,205,441 58,219,255 13,815
ENST00000393119.7 hg38 chr17 58,205,441 58,219,255 13,815
ENST00000581180.2 hg38 chr17 58,215,465 58,219,230 3,766
ENST00000676787.1 hg38 chr17 58,205,441 58,219,255 13,815
ENST00000537529.7 hg38 chr17 58,205,740 58,219,605 13,866
ENST00000581761.6 hg38 chr17 58,208,654 58,219,255 10,602
ENST00000585134.2 hg38 chr17 58,207,566 58,219,255 11,690
ENST00000580127.6 hg38 chr17 58,207,561 58,219,255 11,695
ENST00000313863.11 hg19 chr17 56,282,802 56,296,616 13,815
ENST00000393119.7 hg19 chr17 56,282,802 56,296,616 13,815
ENST00000580127.6 hg19 chr17 56,284,922 56,296,616 11,695
ENST00000581180.2 hg19 chr17 56,292,826 56,296,591 3,766
ENST00000581761.6 hg19 chr17 56,286,015 56,296,616 10,602
ENST00000537529.7 hg19 chr17 56,283,101 56,296,966 13,866
ENST00000676787.1 hg19 chr17 56,282,802 56,296,616 13,815
ENST00000585134.2 hg19 chr17 56,284,927 56,296,616 11,690
ENST00000678463.1 hg19 chr17 56,282,802 56,296,616 13,815
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