ELP6 elongator acetyltransferase complex subunit 6

Information
Symbol
ELP6
Type
protein-coding
Description
elongator acetyltransferase complex subunit 6
Entrez Gene ID
54859
Genome
hg19
Position
chr3:47,537,130-47,555,202
Genome
hg38
Position
chr3:47,495,640-47,513,712
MIM
615020 OMIM
HGNC
HGNC:25976 HGNC
Ensembl
ENSG00000163832 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 2
Benign 0 2
Likely benign 0 6
Uncertain significance 0 34
Ranking
ClinVar
0
0
0
42
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
Category :
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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 :
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 C3orf75
SYNONYM TMEM103
MIM 615020 OMIM
HGNC HGNC:25976 HGNC
Ensembl ENSG00000163832 Ensembl
AllianceGenome HGNC:25976
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000446787.5 hg38 chr3 47,495,946 47,511,215 15,270
ENST00000439305.5 hg38 chr3 47,496,029 47,513,413 17,385
ENST00000296149.9 hg38 chr3 47,495,640 47,513,712 18,073
ENST00000296149.9 hg19 chr3 47,537,130 47,555,202 18,073
ENST00000446787.5 hg19 chr3 47,537,436 47,552,705 15,270
ENST00000439305.5 hg19 chr3 47,537,519 47,554,903 17,385
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