LCA5L lebercilin LCA5 like

Information
Symbol
LCA5L
Type
protein-coding
Description
lebercilin LCA5 like
Entrez Gene ID
150082
Genome
hg19
Position
chr21:40,777,786-40,817,659
Genome
hg38
Position
chr21:39,405,860-39,445,733
HGNC
HGNC:1255 HGNC
Ensembl
ENSG00000157578 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 8
not provided 2 0
Uncertain significance 2 68
Ranking
ClinVar
0
0
0
76
0
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 C21orf13
HGNC HGNC:1255 HGNC
Ensembl ENSG00000157578 Ensembl
AllianceGenome HGNC:1255
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000358268.6 hg38 chr21 39,405,860 39,445,733 39,874
ENST00000380671.6 hg38 chr21 39,405,844 39,428,522 22,679
ENST00000288350.8 hg38 chr21 39,405,728 39,445,778 40,051
ENST00000485895.6 hg38 chr21 39,421,560 39,445,777 24,218
ENST00000288350.8 hg19 chr21 40,777,654 40,817,704 40,051
ENST00000380671.6 hg19 chr21 40,777,770 40,800,448 22,679
ENST00000358268.6 hg19 chr21 40,777,786 40,817,659 39,874
ENST00000485895.6 hg19 chr21 40,793,486 40,817,703 24,218
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