MBNL3 muscleblind like splicing regulator 3

Information
Symbol
MBNL3
Type
protein-coding
Description
muscleblind like splicing regulator 3
Entrez Gene ID
55796
Genome
hg19
Position
chrX:131,503,348-131,623,066
Genome
hg38
Position
chrX:132,369,320-132,489,038
MIM
300413 OMIM
HGNC
HGNC:20564 HGNC
Ensembl
ENSG00000076770 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 4
not provided 6 0
Uncertain significance 0 18
Ranking
ClinVar
0
0
0
24
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 :
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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 CHCR
SYNONYM MBLX
SYNONYM MBLX39
SYNONYM MBXL
MIM 300413 OMIM
HGNC HGNC:20564 HGNC
Ensembl ENSG00000076770 Ensembl
AllianceGenome HGNC:20564
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000473364.2 hg38 chrX 132,379,512 132,411,382 31,871
ENST00000394311.7 hg38 chrX 132,379,209 132,413,609 34,401
ENST00000370839.7 hg38 chrX 132,379,204 132,439,690 60,487
ENST00000698663.1 hg38 chrX 132,379,512 132,411,380 31,869
ENST00000698664.1 hg38 chrX 132,379,552 132,489,930 110,379
ENST00000370844.5 hg38 chrX 132,379,204 132,489,968 110,765
ENST00000442191.6 hg38 chrX 132,379,195 132,411,248 32,054
ENST00000370849.7 hg38 chrX 132,379,203 132,413,575 34,373
ENST00000370853.8 hg38 chrX 132,369,320 132,489,038 119,719
ENST00000370857.7 hg38 chrX 132,372,001 132,439,677 67,677
ENST00000538204.6 hg38 chrX 132,369,320 132,413,575 44,256
ENST00000538204.6 hg19 chrX 131,503,348 131,547,603 44,256
ENST00000370853.8 hg19 chrX 131,503,348 131,623,066 119,719
ENST00000370857.7 hg19 chrX 131,506,029 131,573,705 67,677
ENST00000442191.6 hg19 chrX 131,513,223 131,545,276 32,054
ENST00000370849.7 hg19 chrX 131,513,231 131,547,603 34,373
ENST00000370839.7 hg19 chrX 131,513,232 131,573,718 60,487
ENST00000370844.5 hg19 chrX 131,513,232 131,623,996 110,765
ENST00000394311.7 hg19 chrX 131,513,237 131,547,637 34,401
ENST00000698663.1 hg19 chrX 131,513,540 131,545,408 31,869
ENST00000473364.2 hg19 chrX 131,513,540 131,545,410 31,871
ENST00000698664.1 hg19 chrX 131,513,580 131,623,958 110,379
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