WASF1 WASP family member 1

Information
Symbol
WASF1
Type
protein-coding
Description
WASP family member 1
Entrez Gene ID
8936
Genome
hg19
Position
chr6:110,421,022-110,500,873
Genome
hg38
Position
chr6:110,099,819-110,179,670
MIM
605035 OMIM
HGNC
HGNC:12732 HGNC
Ensembl
ENSG00000112290 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 10
Likely pathogenic 0 6
Benign 0 2
Likely benign 0 28
Uncertain significance 0 76
Ranking
ClinVar
0
0
8
110
4
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 NEDALVS
SYNONYM SCAR1
SYNONYM WAVE
SYNONYM WAVE1
MIM 605035 OMIM
HGNC HGNC:12732 HGNC
Ensembl ENSG00000112290 Ensembl
AllianceGenome HGNC:12732
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000359451.6 hg38 chr6 110,099,819 110,180,004 80,186
ENST00000392589.6 hg38 chr6 110,099,819 110,179,670 79,852
ENST00000392588.5 hg38 chr6 110,099,819 110,180,004 80,186
ENST00000392587.6 hg38 chr6 110,099,819 110,179,702 79,884
ENST00000392586.5 hg38 chr6 110,099,819 110,180,001 80,183
ENST00000392589.6 hg19 chr6 110,421,022 110,500,873 79,852
ENST00000392587.6 hg19 chr6 110,421,022 110,500,905 79,884
ENST00000392586.5 hg19 chr6 110,421,022 110,501,204 80,183
ENST00000359451.6 hg19 chr6 110,421,022 110,501,207 80,186
ENST00000392588.5 hg19 chr6 110,421,022 110,501,207 80,186
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