DGCR6 DiGeorge syndrome critical region gene 6

Information
Symbol
DGCR6
Type
protein-coding
Description
DiGeorge syndrome critical region gene 6
Entrez Gene ID
8214
Genome
hg19
Position
chr22:18,893,833-18,899,601
Genome
hg38
Position
chr22:18,906,320-18,912,088
MIM
601279 OMIM
HGNC
HGNC:2846 HGNC
Ensembl
ENSG00000183628 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 8
not provided 14 0
Uncertain significance 0 38
Ranking
ClinVar
0
0
0
50
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
MIM 601279 OMIM
HGNC HGNC:2846 HGNC
Ensembl ENSG00000183628 Ensembl
AllianceGenome HGNC:2846
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000331444.12 hg38 chr22 18,906,320 18,912,088 5,769
ENST00000413981.5 hg38 chr22 18,906,028 18,912,088 6,061
ENST00000608842.1 hg38 chr22 18,906,353 18,908,269 1,917
ENST00000413981.5 hg19 chr22 18,893,541 18,899,601 6,061
ENST00000331444.12 hg19 chr22 18,893,833 18,899,601 5,769
ENST00000608842.1 hg19 chr22 18,893,866 18,895,782 1,917
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