NPHP1 nephrocystin 1

Information
Symbol
NPHP1
Type
protein-coding
Description
nephrocystin 1
Entrez Gene ID
4867
Genome
hg19
Position
chr2:110,879,888-110,962,619
Genome
hg38
Position
chr2:110,122,311-110,205,042
MIM
607100 OMIM
HGNC
HGNC:7905 HGNC
Ensembl
ENSG00000144061 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 130
Likely pathogenic 0 108
Benign 0 102
Likely benign 0 698
Conflicting classifications of pathogenicity 0 92
Uncertain significance 0 618
Ranking
ClinVar
0
0
270
1,342
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 JBTS4
SYNONYM NPH1
SYNONYM SLSN1
MIM 607100 OMIM
HGNC HGNC:7905 HGNC
Ensembl ENSG00000144061 Ensembl
AllianceGenome HGNC:7905
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000417665.5 hg38 chr2 110,123,708 110,204,995 81,288
ENST00000393272.7 hg38 chr2 110,123,336 110,205,066 81,731
ENST00000675067.1 hg38 chr2 110,123,438 110,204,988 81,551
ENST00000355301.8 hg38 chr2 110,123,708 110,204,972 81,265
ENST00000676028.1 hg38 chr2 110,123,438 110,204,989 81,552
ENST00000418527.1 hg38 chr2 110,178,041 110,204,999 26,959
ENST00000676053.1 hg38 chr2 110,123,438 110,204,988 81,551
ENST00000445609.7 hg38 chr2 110,123,348 110,205,013 81,666
ENST00000316534.8 hg38 chr2 110,122,311 110,205,042 82,732
ENST00000316534.8 hg19 chr2 110,879,888 110,962,619 82,732
ENST00000393272.7 hg19 chr2 110,880,913 110,962,643 81,731
ENST00000445609.7 hg19 chr2 110,880,925 110,962,590 81,666
ENST00000355301.8 hg19 chr2 110,881,285 110,962,549 81,265
ENST00000417665.5 hg19 chr2 110,881,285 110,962,572 81,288
ENST00000418527.1 hg19 chr2 110,935,618 110,962,576 26,959
ENST00000675067.1 hg19 chr2 110,881,015 110,962,565 81,551
ENST00000676028.1 hg19 chr2 110,881,015 110,962,566 81,552
ENST00000676053.1 hg19 chr2 110,881,015 110,962,565 81,551
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