Full data view for 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     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.791C>G - r.(?) p.(Pro264Arg) Unknown g.36340187G>C g.35849285G>C - - NPHS1_000006 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.791C>G - r.(?) p.(Pro264Arg) Unknown g.36340187G>C g.35849285G>C - - NPHS1_000006 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+?/+? 07 c.791C>G - r.(791c>g) p.(Pro264Arg) Unknown 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 - - - - - - - - - - - - - - - - - - - - - -
?/. 7 c.791C>G - r.(?) p.(Pro264Arg) Both (homozygous) g.36340187G>C g.35849285G>C - - NPHS1_000006 - - - - Germline yes - - 0 - DNA SEQ-NG Blood - CTRCT - - 2-generation family, 2 affecteds, patient I.2 F yes Germany Caucasian - 0 - - 1 Inst.Human Genetics - Heidelberg
?/. 7 c.791C>G - r.(?) p.(Pro264Arg) Both (homozygous) g.36340187G>C g.35849285G>C - - NPHS1_000006 - - - - Germline yes - - 0 - DNA SEQ-NG Blood - CTRCT - - 2-generation family, sister of PatI.2 F yes Germany Caucasian - 0 - - 1 Inst.Human Genetics - Heidelberg
?/. 7 c.791C>G - r.(?) p.(Pro264Arg) Unknown g.36340187G>C g.35849285G>C - - NPHS1_000006 - - - - Germline - - - 0 - DNA SEQ-NG Blood - Healthy/Control - - Father of 00025020 and 00025118 M ? Germany Caucasian - 0 - - 1 Inst.Human Genetics - Heidelberg
?/. 7 c.791C>G - r.(?) p.(Pro264Arg) Unknown g.36340187G>C g.35849285G>C - - NPHS1_000006 - - - - Germline - - - 0 - DNA SEQ-NG Blood - Healthy/Control - - Mother of 00025020 and 00025118 F ? Germany Caucasian - 0 - - 1 Inst.Human Genetics - Heidelberg
-/. - c.791C>G benign r.(?) p.(Pro264Arg) Unknown g.36340187G>C - NPHS1(NM_004646.3):c.791C>G (p.P264R) - NPHS1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.791C>G likely benign r.(?) p.(Pro264Arg) Unknown g.36340187G>C - NPHS1(NM_004646.3):c.791C>G (p.P264R) - NPHS1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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