TWIST1 twist family bHLH transcription factor 1

Information
Symbol
TWIST1
Type
protein-coding
Description
twist family bHLH transcription factor 1
Entrez Gene ID
7291
Genome
hg19
Position
chr7:19,155,091-19,157,259
Genome
hg38
Position
chr7:19,115,468-19,117,636
MIM
601622 OMIM
HGNC
HGNC:12428 HGNC
Ensembl
ENSG00000122691 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 10 118
Likely pathogenic 25 48
Benign 0 12
Likely benign 0 50
Conflicting classifications of pathogenicity 0 16
Uncertain significance 0 156
Ranking
ClinVar
0
0
48
294
24
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 :
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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 ACS3
SYNONYM BPES2
SYNONYM BPES3
SYNONYM CRS
SYNONYM CRS1
SYNONYM CSO
SYNONYM SCS
SYNONYM SWCOS
SYNONYM TWIST
SYNONYM bHLHa38
MIM 601622 OMIM
HGNC HGNC:12428 HGNC
Ensembl ENSG00000122691 Ensembl
AllianceGenome HGNC:12428
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000242261.6 hg38 chr7 19,115,468 19,117,636 2,169
ENST00000242261.6 hg19 chr7 19,155,091 19,157,259 2,169
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