Full data view for gene NPHS2

Information The variants shown are described using the NM_014625.2 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/? 1_8 c.? r.? p.? Maternal (inferred) - VUS g.? - - - NPHS2_000000 unknown variant 2nd chromosome - - - Germline - - - - - DNA SSCA, SEQ - - NPHS Fam9 PubMed: Boute 2000 - ? ? - (Europe) - 0 - - 1 Johan den Dunnen
?/? 1_8 c.? r.? p.? Maternal (inferred) - VUS g.? - - - NPHS2_000000 unknown variant 2nd chromosome - - - Germline - - - - - DNA SSCA, SEQ - - NPHS-2 - {PMID10742096:Boute 2000} - ? ? - (Europe) - - - - 1 Johan den Dunnen
?/? 1_8 c.? r.? p.? Maternal (inferred) - VUS g.? - - - NPHS2_000000 unknown variant 2nd chromosome - - - Germline - - - - - DNA SSCA, SEQ - - NPHS-2 - PubMed: Boute 2000 - ? ? - (Europe) - 0 - - 1 Johan den Dunnen
?/? 1_8 c.? r.? p.? Maternal (inferred) - VUS g.? - - - NPHS2_000000 unknown variant 2nd chromosome - - - Germline - - - - - DNA SSCA, SEQ - - NPHS-2 - {PMID10742096:Boute 2000} - ? ? - (Europe) - - - - 1 Johan den Dunnen
+/? 3i c.? r.spl p.? Both (homozygous) - pathogenic g.179528895C>A - c.452+1G>T - NPHS2_000000 Variant Error [EREF/ESYNTAX]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. Hinkes et al, 2008 (JASN) - - Germline - - - 0 - DNA SEQ - - NPHS-2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
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