BAHCC1 BAH domain and coiled-coil containing 1

Information
Symbol
BAHCC1
Type
protein-coding
Description
BAH domain and coiled-coil containing 1
Entrez Gene ID
57597
Genome
hg19
Position
chr17:79,369,275-79,433,357
Genome
hg38
Position
chr17:81,395,475-81,466,331
MIM
617646 OMIM
HGNC
HGNC:29279 HGNC
Ensembl
ENSG00000266074 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 2 0
Likely benign 0 24
Uncertain significance 0 4
Ranking
ClinVar
0
0
0
28
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 BAHD2
MIM 617646 OMIM
HGNC HGNC:29279 HGNC
Ensembl ENSG00000266074 Ensembl
AllianceGenome HGNC:29279
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000584436.7 hg38 chr17 81,395,475 81,466,331 70,857
ENST00000675386.2 hg38 chr17 81,395,457 81,466,331 70,875
ENST00000675386.2 hg19 chr17 79,369,257 79,433,357 64,101
ENST00000584436.7 hg19 chr17 79,369,275 79,433,357 64,083
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