KITLG KIT ligand

Information
Symbol
KITLG
Type
protein-coding
Description
KIT ligand
Entrez Gene ID
4254
Genome
hg19
Position
chr12:88,886,570-88,974,248
Genome
hg38
Position
chr12:88,492,793-88,580,471
MIM
184745 OMIM
HGNC
HGNC:6343 HGNC
Ensembl
ENSG00000049130 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 20
Likely pathogenic 0 4
Benign 0 38
Likely benign 0 56
Conflicting classifications of pathogenicity 0 4
not provided 1 0
Uncertain significance 0 72
Ranking
ClinVar
0
0
28
138
20
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 DCUA
SYNONYM DFNA69
SYNONYM FPH2
SYNONYM FPHH
SYNONYM KL-1
SYNONYM Kitl
SYNONYM MGF
SYNONYM SCF
SYNONYM SF
SYNONYM SHEP7
SYNONYM SLF
SYNONYM WS2F
MIM 184745 OMIM
HGNC HGNC:6343 HGNC
Ensembl ENSG00000049130 Ensembl
AllianceGenome HGNC:6343
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000644744.1 hg38 chr12 88,492,793 88,580,471 87,679
ENST00000347404.10 hg38 chr12 88,492,793 88,580,851 88,059
ENST00000357116.4 hg38 chr12 88,497,080 88,580,471 83,392
ENST00000644744.1 hg19 chr12 88,886,570 88,974,248 87,679
ENST00000347404.10 hg19 chr12 88,886,570 88,974,628 88,059
ENST00000357116.4 hg19 chr12 88,890,857 88,974,248 83,392
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