Full data view for gene NPHS1

Information The variants shown are described using the NM_004646.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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     
+?/+? 07 c.766C>T r.(766c>u) p.(Arg256Trp) Unknown - - g.36340212G>A g.35849310G>A Ex7, c.767C>T(h) = R256W - NPHS1_000039 1 Arabic CNF patient (hom) PubMed: Heeringa et al. 2008 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.766C>T r.(?) p.(Arg256Trp) Parent #1 - - g.36340212G>A g.35849310G>A - - NPHS1_000039 7 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs386833960 Germline - 7/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 7 Mohammed Faruq
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