NPHS1 NPHS1 adhesion molecule, nephrin

Information
Symbol
NPHS1
Type
protein-coding
Description
NPHS1 adhesion molecule, nephrin
Entrez Gene ID
4868
Genome
hg19
Position
chr19:36,316,274-36,343,406
Genome
hg38
Position
chr19:35,825,372-35,852,504
MIM
602716 OMIM
HGNC
HGNC:7908 HGNC
Ensembl
ENSG00000161270 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 35 380
Likely pathogenic 2 514
Benign 0 133
Likely benign 0 1,910
Conflicting classifications of pathogenicity 0 242
drug response 0 6
no classification for the single variant 0 4
Uncertain significance 0 494
Ranking
ClinVar
0
0
490
2,659
136
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 :
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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 CNF
SYNONYM NPHN
SYNONYM nephrin
MIM 602716 OMIM
HGNC HGNC:7908 HGNC
Ensembl ENSG00000161270 Ensembl
AllianceGenome HGNC:7908
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000378910.10 hg38 chr19 35,825,372 35,852,504 27,133
ENST00000353632.6 hg38 chr19 35,826,380 35,851,838 25,459
ENST00000378910.10 hg19 chr19 36,316,274 36,343,406 27,133
ENST00000353632.6 hg19 chr19 36,317,282 36,342,740 25,459
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