NPHS2 NPHS2 stomatin family member, podocin

Information
Symbol
NPHS2
Type
protein-coding
Description
NPHS2 stomatin family member, podocin
Entrez Gene ID
7827
Genome
hg19
Position
chr1:179,519,674-179,545,083
Genome
hg38
Position
chr1:179,550,539-179,575,948
MIM
604766 OMIM
HGNC
HGNC:13394 HGNC
Ensembl
ENSG00000116218 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 146
Likely pathogenic 0 172
Benign 0 74
Likely benign 0 446
Conflicting classifications of pathogenicity 0 60
drug response 0 12
Uncertain significance 0 174
Ranking
ClinVar
0
0
202
694
48
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 PDCN
SYNONYM SRN1
MIM 604766 OMIM
HGNC HGNC:13394 HGNC
Ensembl ENSG00000116218 Ensembl
AllianceGenome HGNC:13394
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000367615.9 hg38 chr1 179,550,539 179,575,948 25,410
ENST00000367616.4 hg38 chr1 179,550,539 179,575,952 25,414
ENST00000367615.9 hg19 chr1 179,519,674 179,545,083 25,410
ENST00000367616.4 hg19 chr1 179,519,674 179,545,087 25,414
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