LMNA lamin A/C

Information
Symbol
LMNA
Type
protein-coding
Description
lamin A/C
Entrez Gene ID
4000
Genome
hg19
Position
chr1:156,084,502-156,109,872
Genome
hg38
Position
chr1:156,114,711-156,140,081
MIM
150330 OMIM
HGNC
HGNC:6636 HGNC
Ensembl
ENSG00000160789 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 19 622
Likely pathogenic 7 390
Benign 0 148
Likely benign 0 884
Conflicting classifications of pathogenicity 0 442
not provided 0 166
Uncertain risk allele 0 6
Uncertain significance 0 1,518
Ranking
ClinVar
0
0
1,128
2,182
90
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 CDCD1
SYNONYM CDDC
SYNONYM CMD1A
SYNONYM CMT2B1
SYNONYM EMD2
SYNONYM FPL
SYNONYM FPLD
SYNONYM FPLD2
SYNONYM HGPS
SYNONYM IDC
SYNONYM LDP1
SYNONYM LFP
SYNONYM LGMD1B
SYNONYM LMN1
SYNONYM LMNC
SYNONYM LMNL1
SYNONYM MADA
SYNONYM PRO1
MIM 150330 OMIM
HGNC HGNC:6636 HGNC
Ensembl ENSG00000160789 Ensembl
AllianceGenome HGNC:6636
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000368299.7 hg38 chr1 156,114,722 156,139,317 24,596
ENST00000368297.5 hg38 chr1 156,126,189 156,137,865 11,677
ENST00000361308.9 hg38 chr1 156,114,251 156,139,293 25,043
ENST00000473598.6 hg38 chr1 156,126,555 156,139,303 12,749
ENST00000504687.7 hg38 chr1 156,126,545 156,140,081 13,537
ENST00000676385.2 hg38 chr1 156,093,340 156,139,171 45,832
ENST00000682650.1 hg38 chr1 156,112,123 156,139,275 27,153
ENST00000683032.1 hg38 chr1 156,112,122 156,139,225 27,104
ENST00000448611.6 hg38 chr1 156,126,160 156,140,013 13,854
ENST00000677389.1 hg38 chr1 156,114,711 156,137,866 23,156
ENST00000675667.1 hg38 chr1 156,106,698 156,139,240 32,543
ENST00000368300.9 hg38 chr1 156,114,711 156,140,081 25,371
ENST00000368301.6 hg38 chr1 156,082,578 156,137,865 55,288
ENST00000675939.1 hg38 chr1 156,099,034 156,139,293 40,260
ENST00000368299.7 hg19 chr1 156,084,513 156,109,108 24,596
ENST00000448611.6 hg19 chr1 156,095,951 156,109,804 13,854
ENST00000368297.5 hg19 chr1 156,095,980 156,107,656 11,677
ENST00000473598.6 hg19 chr1 156,096,346 156,109,094 12,749
ENST00000368301.6 hg19 chr1 156,052,369 156,107,656 55,288
ENST00000675939.1 hg19 chr1 156,068,825 156,109,084 40,260
ENST00000504687.7 hg19 chr1 156,096,336 156,109,872 13,537
ENST00000676385.2 hg19 chr1 156,063,131 156,108,962 45,832
ENST00000675667.1 hg19 chr1 156,076,489 156,109,031 32,543
ENST00000682650.1 hg19 chr1 156,081,914 156,109,066 27,153
ENST00000361308.9 hg19 chr1 156,084,042 156,109,084 25,043
ENST00000368300.9 hg19 chr1 156,084,502 156,109,872 25,371
ENST00000677389.1 hg19 chr1 156,084,502 156,107,657 23,156
ENST00000683032.1 hg19 chr1 156,081,913 156,109,016 27,104
KeyValue
strand+
start156,052,336
Gene SymbolLMNA
Entrez GeneId4,000
Chr Band1q22
end156,109,879
chrchr1
Namelamin A/C
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