Full data view for gene NPHS1

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

3 entries on 1 page. Showing entries 1 - 3.
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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     
+?/+? 18 c.2491C>T r.(2491c>u) p.(Arg831Cys) Unknown - likely pathogenic g.36333296G>A g.35842394G>A exon 18 nt2491(C>T): Arg831>Cys - NPHS1_000097 1 North American CNF family (het) PubMed: Lenkkeri at al. 1999 - - SUMMARY record yes 0/30 CON - - - - - - - - - - - - - - - - - - - - -
./. - c.2491C>T r.(?) p.(Arg831Cys) Maternal (confirmed) - pathogenic g.36333296G>A g.35842394G>A - - NPHS1_000097 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
+/. - c.2491C>T r.(?) p.(Arg831Cys) Unknown - pathogenic g.36333296G>A g.35842394G>A - - NPHS1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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