ANKRD49 ankyrin repeat domain 49

Information
Symbol
ANKRD49
Type
protein-coding
Description
ankyrin repeat domain 49
Entrez Gene ID
54851
Genome
hg19
Position
chr11:94,227,150-94,232,744
Genome
hg38
Position
chr11:94,493,984-94,499,578
MIM
619571 OMIM
HGNC
HGNC:25970 HGNC
Ensembl
ENSG00000168876 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 2
Uncertain significance 0 10
Ranking
ClinVar
0
0
0
14
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
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
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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 FGIF
SYNONYM GBIF
MIM 619571 OMIM
HGNC HGNC:25970 HGNC
Ensembl ENSG00000168876 Ensembl
AllianceGenome HGNC:25970
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000544253.1 hg38 chr11 94,494,008 94,499,577 5,570
ENST00000302755.4 hg38 chr11 94,496,600 94,499,562 2,963
ENST00000544612.6 hg38 chr11 94,493,984 94,499,578 5,595
ENST00000540349.1 hg38 chr11 94,493,979 94,498,112 4,134
ENST00000534911.1 hg38 chr11 94,493,984 94,498,263 4,280
ENST00000540349.1 hg19 chr11 94,227,145 94,231,278 4,134
ENST00000534911.1 hg19 chr11 94,227,150 94,231,429 4,280
ENST00000544612.6 hg19 chr11 94,227,150 94,232,744 5,595
ENST00000544253.1 hg19 chr11 94,227,174 94,232,743 5,570
ENST00000302755.4 hg19 chr11 94,229,766 94,232,728 2,963
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