All transcript variants in 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)     

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     
+?/+? 09 c.1126C>G - r.(1126c>g) p.(Leu376Val) g.36339583G>C g.35848681G>C exon 9 nt1126 (C>G): Leu376>Val - NPHS1_000051 1 Dutch CNF family (com-het) PubMed: Lenkkeri at al. 1999 - - SUMMARY record yes 0/30 CON 9 - - Anne Polvi
-?/. - c.1126C>G likely benign r.(?) p.(Leu376Val) g.36339583G>C - NPHS1:c.1126C>G (L376V) - NPHS1_000051 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
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