KIR2DL1 killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1

Information
Symbol
KIR2DL1
Type
protein-coding
Description
killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1
Entrez Gene ID
3802
Genome
hg19
Position
chr19:55,281,245-55,295,774
Genome
hg38
Position
chr19:54,769,793-54,784,322
MIM
604936 OMIM
HGNC
HGNC:6329 HGNC
Ensembl
ENSG00000125498 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 22
Uncertain significance 0 2
Ranking
ClinVar
0
0
2
22
2
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
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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 :
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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 :
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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 CD158A
SYNONYM KIR-K64
SYNONYM KIR221
SYNONYM KIR2DL3
SYNONYM NKAT
SYNONYM NKAT-1
SYNONYM NKAT1
SYNONYM p58.1
MIM 604936 OMIM
HGNC HGNC:6329 HGNC
Ensembl ENSG00000125498 Ensembl
AllianceGenome HGNC:6329
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000291633.7 hg38 chr19 54,769,825 54,783,865 14,041
ENST00000336077.11 hg38 chr19 54,769,793 54,784,322 14,530
ENST00000336077.11 hg19 chr19 55,281,245 55,295,774 14,530
ENST00000291633.7 hg19 chr19 55,281,277 55,295,317 14,041
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