ABCB6 ATP binding cassette subfamily B member 6 (LAN blood group)

Information
Symbol
ABCB6
Type
protein-coding
Description
ATP binding cassette subfamily B member 6 (LAN blood group)
Entrez Gene ID
10058
Genome
hg19
Position
chr2:220,074,494-220,083,680
Genome
hg38
Position
chr2:219,209,772-219,218,958
MIM
605452 OMIM
HGNC
HGNC:47 HGNC
Ensembl
ENSG00000115657 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 12
Likely pathogenic 0 4
Benign 0 56
Likely benign 0 78
Affects 0 8
Conflicting classifications of pathogenicity 0 10
not provided 0 2
Uncertain significance 0 202
Ranking
ClinVar
0
0
42
284
22
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
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 ABC
SYNONYM LAN
SYNONYM MTABC3
SYNONYM PRP
SYNONYM umat
MIM 605452 OMIM
HGNC HGNC:47 HGNC
Ensembl ENSG00000115657 Ensembl
AllianceGenome HGNC:47
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000295750.5 hg38 chr2 219,209,772 219,218,994 9,223
ENST00000265316.9 hg38 chr2 219,209,772 219,218,958 9,187
ENST00000265316.9 hg19 chr2 220,074,494 220,083,680 9,187
ENST00000295750.5 hg19 chr2 220,074,494 220,083,716 9,223
Genome browser