LIMA1 LIM domain and actin binding 1

Information
Symbol
LIMA1
Type
protein-coding
Description
LIM domain and actin binding 1
Entrez Gene ID
51474
Genome
hg19
Position
chr12:50,569,571-50,677,289
Genome
hg38
Position
chr12:50,175,788-50,283,506
MIM
608364 OMIM
HGNC
HGNC:24636 HGNC
Ensembl
ENSG00000050405 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 12
association 0 4
Uncertain significance 0 64
Ranking
ClinVar
0
0
0
78
4
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 :
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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 EPLIN
SYNONYM LDLCQ8
SYNONYM SREBP3
MIM 608364 OMIM
HGNC HGNC:24636 HGNC
Ensembl ENSG00000050405 Ensembl
AllianceGenome HGNC:24636
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000552823.5 hg38 chr12 50,175,788 50,222,348 46,561
ENST00000552909.5 hg38 chr12 50,176,885 50,222,356 45,472
ENST00000552783.5 hg38 chr12 50,175,790 50,222,705 46,916
ENST00000547825.5 hg38 chr12 50,175,788 50,202,112 26,325
ENST00000394943.7 hg38 chr12 50,175,788 50,283,506 107,719
ENST00000341247.9 hg38 chr12 50,175,788 50,283,520 107,733
ENST00000552491.5 hg38 chr12 50,175,788 50,200,847 25,060
ENST00000552491.5 hg19 chr12 50,569,571 50,594,630 25,060
ENST00000547825.5 hg19 chr12 50,569,571 50,595,895 26,325
ENST00000552823.5 hg19 chr12 50,569,571 50,616,131 46,561
ENST00000394943.7 hg19 chr12 50,569,571 50,677,289 107,719
ENST00000341247.9 hg19 chr12 50,569,571 50,677,303 107,733
ENST00000552783.5 hg19 chr12 50,569,573 50,616,488 46,916
ENST00000552909.5 hg19 chr12 50,570,668 50,616,139 45,472
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