BHMT betaine--homocysteine S-methyltransferase

Information
Symbol
BHMT
Type
protein-coding
Description
betaine--homocysteine S-methyltransferase
Entrez Gene ID
635
Genome
hg19
Position
chr5:78,407,632-78,428,111
Genome
hg38
Position
chr5:79,111,809-79,132,288
MIM
602888 OMIM
HGNC
HGNC:1047 HGNC
Ensembl
ENSG00000145692 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 2
not provided 1 2
Uncertain significance 0 44
Ranking
ClinVar
0
0
0
52
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 BHMT1
SYNONYM HEL-S-61p
MIM 602888 OMIM
HGNC HGNC:1047 HGNC
Ensembl ENSG00000145692 Ensembl
AllianceGenome HGNC:1047
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000524080.1 hg38 chr5 79,111,809 79,131,484 19,676
ENST00000274353.10 hg38 chr5 79,111,809 79,132,288 20,480
ENST00000524080.1 hg19 chr5 78,407,632 78,427,307 19,676
ENST00000274353.10 hg19 chr5 78,407,632 78,428,111 20,480
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