ABCC3 ATP binding cassette subfamily C member 3

Information
Symbol
ABCC3
Type
protein-coding
Description
ATP binding cassette subfamily C member 3
Entrez Gene ID
8714
Genome
hg19
Position
chr17:48,712,242-48,769,614
Genome
hg38
Position
chr17:50,634,881-50,692,253
MIM
604323 OMIM
HGNC
HGNC:54 HGNC
Ensembl
ENSG00000108846 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 12
Likely benign 0 32
not provided 1 0
Uncertain significance 0 142
Ranking
ClinVar
0
0
6
176
2
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 ABC31
SYNONYM EST90757
SYNONYM MLP2
SYNONYM MOAT-D
SYNONYM MRP3
SYNONYM cMOAT2
MIM 604323 OMIM
HGNC HGNC:54 HGNC
Ensembl ENSG00000108846 Ensembl
AllianceGenome HGNC:54
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000285238.13 hg38 chr17 50,634,881 50,692,253 57,373
ENST00000427699.5 hg38 chr17 50,634,857 50,667,923 33,067
ENST00000515707.1 hg38 chr17 50,634,777 50,635,915 1,139
ENST00000285238.13 hg19 chr17 48,712,242 48,769,614 57,373
ENST00000427699.5 hg19 chr17 48,712,218 48,745,284 33,067
ENST00000515707.1 hg19 chr17 48,712,138 48,713,276 1,139
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