BCAS1 brain enriched myelin associated protein 1

Information
Symbol
BCAS1
Type
protein-coding
Description
brain enriched myelin associated protein 1
Entrez Gene ID
8537
Genome
hg19
Position
chr20:52,560,080-52,687,133
Genome
hg38
Position
chr20:53,943,541-54,070,594
MIM
602968 OMIM
HGNC
HGNC:974 HGNC
Ensembl
ENSG00000064787 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 14
Likely benign 0 8
not provided 1 0
Uncertain significance 0 56
Ranking
ClinVar
0
0
0
78
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 :
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 AIBC1
SYNONYM NABC1
SYNONYM PMES-2
MIM 602968 OMIM
HGNC HGNC:974 HGNC
Ensembl ENSG00000064787 Ensembl
AllianceGenome HGNC:974
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000688948.1 hg38 chr20 53,943,541 54,070,594 127,054
ENST00000689476.1 hg38 chr20 53,944,623 53,996,197 51,575
ENST00000395961.7 hg38 chr20 53,943,541 54,070,594 127,054
ENST00000685429.1 hg38 chr20 53,942,304 54,029,369 87,066
ENST00000690125.1 hg38 chr20 53,943,549 53,996,168 52,620
ENST00000371435.6 hg38 chr20 53,943,541 54,070,545 127,005
ENST00000422805.2 hg38 chr20 53,944,783 53,996,103 51,321
ENST00000686565.1 hg38 chr20 53,944,783 54,059,020 114,238
ENST00000688711.1 hg38 chr20 53,943,549 53,996,169 52,621
ENST00000685429.1 hg19 chr20 52,558,843 52,645,908 87,066
ENST00000371435.6 hg19 chr20 52,560,080 52,687,084 127,005
ENST00000395961.7 hg19 chr20 52,560,080 52,687,133 127,054
ENST00000688948.1 hg19 chr20 52,560,080 52,687,133 127,054
ENST00000690125.1 hg19 chr20 52,560,088 52,612,707 52,620
ENST00000688711.1 hg19 chr20 52,560,088 52,612,708 52,621
ENST00000689476.1 hg19 chr20 52,561,162 52,612,736 51,575
ENST00000422805.2 hg19 chr20 52,561,322 52,612,642 51,321
ENST00000686565.1 hg19 chr20 52,561,322 52,675,559 114,238
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