All transcript variants in gene NPHS1

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

17 entries on 1 page. Showing entries 1 - 17.
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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     
?/. - c.1223G>A - r.(?) p.(Arg408Gln) g.36339247C>T g.35848345C>T - - NPHS1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.1223G>A - r.(?) p.(Arg408Gln) g.36339247C>T g.35848345C>T - - NPHS1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.1223G>A - r.(?) p.(Arg408Gln) g.36339247C>T g.35848345C>T - - NPHS1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.1223G>A - r.(?) p.(Arg408Gln) g.36339247C>T g.35848345C>T - - NPHS1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.1223G>A - r.(?) p.(Arg408Gln) g.36339247C>T g.35848345C>T - - NPHS1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.1223G>A - r.(?) p.(Arg408Gln) g.36339247C>T g.35848345C>T - - NPHS1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.1223G>A - r.(?) p.(Arg408Gln) g.36339247C>T g.35848345C>T - - NPHS1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.1223G>A - r.(?) p.(Arg408Gln) g.36339247C>T g.35848345C>T - - NPHS1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.1223G>A - r.(?) p.(Arg408Gln) g.36339247C>T g.35848345C>T - - NPHS1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.1223G>A - r.(?) p.(Arg408Gln) g.36339247C>T g.35848345C>T - - NPHS1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.1223G>A - r.(?) p.(Arg408Gln) g.36339247C>T g.35848345C>T - - NPHS1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.1223G>A - r.(?) p.(Arg408Gln) g.36339247C>T g.35848345C>T - - NPHS1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.1223G>A - r.(?) p.(Arg408Gln) g.36339247C>T g.35848345C>T - - NPHS1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
+?/+? 10 c.1223G>A - r.(1223g>a) p.(Arg408Gln) g.36339247C>T g.35848345C>T exon 10 nt1223(G>A): Arg408>Gln; c.G1223A: c.R408Q - NPHS1_000003 1 Finnish CNF family (com-het), 1 North American CNF family (com-het), 1 CNF family of nondescribed origin (het) and 1 European CNF patient (het) PubMed: Lenkkeri at al. 1999, PubMed: Schoeb et al. 2010 - rs33950747 SUMMARY record yes 4/30 CON (het) - - - Anne Polvi
-/. - c.1223G>A benign r.(?) p.(Arg408Gln) g.36339247C>T - NPHS1(NM_004646.3):c.1223G>A (p.R408Q) - NPHS1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1223G>A benign r.(?) p.(Arg408Gln) g.36339247C>T - NPHS1(NM_004646.3):c.1223G>A (p.R408Q) - NPHS1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.1223G>A benign r.(?) p.(Arg408Gln) g.36339247C>T - NPHS1(NM_004646.3):c.1223G>A (p.R408Q) - NPHS1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
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