NKX2-6 NK2 homeobox 6

Information
Symbol
NKX2-6
Type
protein-coding
Description
NK2 homeobox 6
Entrez Gene ID
137814
Genome
hg19
Position
chr8:23,559,253-23,564,269
Genome
hg38
Position
chr8:23,701,740-23,706,756
MIM
611770 OMIM
HGNC
HGNC:32940 HGNC
Ensembl
ENSG00000180053 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 0 4
Benign 0 26
Likely benign 0 42
Conflicting classifications of pathogenicity 0 4
Likely pathogenic; risk factor 0 2
not provided 1 0
Uncertain significance 0 106
Ranking
ClinVar
0
0
20
158
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
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 CSX2
SYNONYM CTHM
SYNONYM NKX2F
SYNONYM NKX4-2
MIM 611770 OMIM
HGNC HGNC:32940 HGNC
Ensembl ENSG00000180053 Ensembl
AllianceGenome HGNC:32940
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000325017.4 hg38 chr8 23,701,740 23,706,756 5,017
ENST00000325017.4 hg19 chr8 23,559,253 23,564,269 5,017
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