CTSD cathepsin D

Information
Symbol
CTSD
Type
protein-coding
Description
cathepsin D
Entrez Gene ID
1509
Genome
hg19
Position
chr11:1,773,985-1,785,157
Genome
hg38
Position
chr11:1,752,755-1,763,927
MIM
116840 OMIM
HGNC
HGNC:2529 HGNC
Ensembl
ENSG00000117984 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 56
Likely pathogenic 0 22
Benign 0 100
Likely benign 0 728
Conflicting classifications of pathogenicity 0 82
Uncertain significance 0 526
Ranking
ClinVar
0
0
250
1,126
10
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 CLN10
SYNONYM CPSD
SYNONYM HEL-S-130P
MIM 116840 OMIM
HGNC HGNC:2529 HGNC
Ensembl ENSG00000117984 Ensembl
AllianceGenome HGNC:2529
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000636571.1 hg38 chr11 1,752,999 1,763,927 10,929
ENST00000367196.4 hg38 chr11 1,752,755 1,762,403 9,649
ENST00000637387.1 hg38 chr11 1,753,206 1,763,941 10,736
ENST00000636843.1 hg38 chr11 1,753,313 1,763,948 10,636
ENST00000429746.2 hg38 chr11 1,752,755 1,764,573 11,819
ENST00000637815.2 hg38 chr11 1,752,752 1,763,906 11,155
ENST00000236671.7 hg38 chr11 1,752,755 1,763,927 11,173
ENST00000438213.6 hg38 chr11 1,753,383 1,763,927 10,545
ENST00000637915.1 hg38 chr11 1,752,788 1,763,896 11,109
ENST00000637815.2 hg19 chr11 1,773,982 1,785,136 11,155
ENST00000367196.4 hg19 chr11 1,773,985 1,783,633 9,649
ENST00000236671.7 hg19 chr11 1,773,985 1,785,157 11,173
ENST00000429746.2 hg19 chr11 1,773,985 1,785,803 11,819
ENST00000637915.1 hg19 chr11 1,774,018 1,785,126 11,109
ENST00000636571.1 hg19 chr11 1,774,229 1,785,157 10,929
ENST00000637387.1 hg19 chr11 1,774,436 1,785,171 10,736
ENST00000636843.1 hg19 chr11 1,774,543 1,785,178 10,636
ENST00000438213.6 hg19 chr11 1,774,613 1,785,157 10,545
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