ATP11C ATPase phospholipid transporting 11C

Information
Symbol
ATP11C
Type
protein-coding
Description
ATPase phospholipid transporting 11C
Entrez Gene ID
286410
Genome
hg19
Position
chrX:138,808,508-138,914,447
Genome
hg38
Position
chrX:139,726,349-139,832,288
MIM
300516 OMIM
HGNC
HGNC:13554 HGNC
Ensembl
ENSG00000101974 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 0 2
Benign 0 12
Likely benign 0 18
Conflicting classifications of pathogenicity 0 2
not provided 6 0
Uncertain significance 0 106
Ranking
ClinVar
0
0
14
120
4
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 ATPIG
SYNONYM ATPIQ
SYNONYM HACXL
MIM 300516 OMIM
HGNC HGNC:13554 HGNC
Ensembl ENSG00000101974 Ensembl
AllianceGenome HGNC:13554
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000361648.6 hg38 chrX 139,726,349 139,832,288 105,940
ENST00000422228.2 hg38 chrX 139,726,349 139,933,072 206,724
ENST00000370557.5 hg38 chrX 139,726,346 139,933,070 206,725
ENST00000682941.1 hg38 chrX 139,726,348 139,933,053 206,706
ENST00000327569.7 hg38 chrX 139,726,349 139,832,288 105,940
ENST00000370557.5 hg19 chrX 138,808,505 139,015,229 206,725
ENST00000682941.1 hg19 chrX 138,808,507 139,015,212 206,706
ENST00000327569.7 hg19 chrX 138,808,508 138,914,447 105,940
ENST00000361648.6 hg19 chrX 138,808,508 138,914,447 105,940
ENST00000422228.2 hg19 chrX 138,808,508 139,015,231 206,724
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