MIP major intrinsic protein of lens fiber

Information
Symbol
MIP
Type
protein-coding
Description
major intrinsic protein of lens fiber
Entrez Gene ID
4284
Genome
hg19
Position
chr12:56,843,286-56,848,441
Genome
hg38
Position
chr12:56,449,502-56,454,657
MIM
154050 OMIM
HGNC
HGNC:7103 HGNC
Ensembl
ENSG00000135517 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 28
Likely pathogenic 0 12
Benign 8 48
Likely benign 0 26
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 86
Ranking
ClinVar
0
0
26
154
12
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 AQP0
SYNONYM CTRCT15
SYNONYM LIM1
SYNONYM MIP26
SYNONYM MP26
MIM 154050 OMIM
HGNC HGNC:7103 HGNC
Ensembl ENSG00000135517 Ensembl
AllianceGenome HGNC:7103
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000652304.1 hg38 chr12 56,449,502 56,454,657 5,156
ENST00000652304.1 hg19 chr12 56,843,286 56,848,441 5,156
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