All transcript variants in gene NPHS1

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

9 entries on 1 page. Showing entries 1 - 9.
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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.791C>G - r.(?) p.(Pro264Arg) g.36340187G>C g.35849285G>C - - NPHS1_000006 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.791C>G - r.(?) p.(Pro264Arg) g.36340187G>C g.35849285G>C - - NPHS1_000006 - - - - Germline - - - - - Gerard C.P. Schaafsma
+?/+? 07 c.791C>G - r.(791c>g) p.(Pro264Arg) g.36340187G>C g.35849285G>C nt791 (C→G): P264R - NPHS1_000006 1 English/Indian CNF patient (com-het) PubMed: Koziell et al. 2002 - rs34982899 SUMMARY record yes - - - - Anne Polvi
?/. 7 c.791C>G - r.(?) p.(Pro264Arg) g.36340187G>C g.35849285G>C - - NPHS1_000006 - - - - Germline yes - - 0 - Inst.Human Genetics - Heidelberg
?/. 7 c.791C>G - r.(?) p.(Pro264Arg) g.36340187G>C g.35849285G>C - - NPHS1_000006 - - - - Germline yes - - 0 - Inst.Human Genetics - Heidelberg
?/. 7 c.791C>G - r.(?) p.(Pro264Arg) g.36340187G>C g.35849285G>C - - NPHS1_000006 - - - - Germline - - - 0 - Inst.Human Genetics - Heidelberg
?/. 7 c.791C>G - r.(?) p.(Pro264Arg) g.36340187G>C g.35849285G>C - - NPHS1_000006 - - - - Germline - - - 0 - Inst.Human Genetics - Heidelberg
-/. - c.791C>G benign r.(?) p.(Pro264Arg) g.36340187G>C - NPHS1(NM_004646.3):c.791C>G (p.P264R) - NPHS1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.791C>G likely benign r.(?) p.(Pro264Arg) g.36340187G>C - NPHS1(NM_004646.3):c.791C>G (p.P264R) - NPHS1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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