All transcript variants in gene NPHS1

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

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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
+/+ 10 c.1307_1308dupAC - r.(1307_1308dupac) p.(Val437Thrfs*2) g.36339162_36339163dup g.35848260_35848261dupGT AC insertion after nucleotide 1306 in exon 10; nt1306(ins2): Frameshift and truncated 438-residue protein; c.1306insAC = N436fsX437 - NPHS1_000062 1 North American CNF patient (hom), 1 Caucasian CNF patient (com-het), 1 Indian CNF patient (hom) and CNF patients with non specified number and origin. PubMed: Kestila et al. 1998, PubMed: Beltcheva et al. 2001, PubMed: Heeringa et al. 2008 - - SUMMARY record yes - - - - Anne Polvi
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