LCT lactase

Information
Symbol
LCT
Type
protein-coding
Description
lactase
Entrez Gene ID
3938
Genome
hg19
Position
chr2:136,545,420-136,594,754
Genome
hg38
Position
chr2:135,787,850-135,837,184
MIM
603202 OMIM
HGNC
HGNC:6530 HGNC
Ensembl
ENSG00000115850 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 14 40
Likely pathogenic 0 32
Benign 0 124
Likely benign 0 592
Conflicting classifications of pathogenicity 0 80
Uncertain significance 0 670
Ranking
ClinVar
0
0
164
1,252
16
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 LAC
SYNONYM LPH
SYNONYM LPH1
MIM 603202 OMIM
HGNC HGNC:6530 HGNC
Ensembl ENSG00000115850 Ensembl
AllianceGenome HGNC:6530
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000264162.7 hg38 chr2 135,787,850 135,837,184 49,335
ENST00000264162.7 hg19 chr2 136,545,420 136,594,754 49,335
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