Full data view for gene NPHS1

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

40 entries on 1 page. Showing entries 1 - 40.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

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Disease     

ID_report     

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Panel size     

Owner     
?/. - c.349G>A - r.(?) p.(Glu117Lys) Both (homozygous) g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Both (homozygous) g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - ?, JBS - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Both (homozygous) g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Both (homozygous) g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Both (homozygous) g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Both (homozygous) g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Both (homozygous) g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-/. - c.349G>A benign r.(?) p.(Glu117Lys) Unknown g.36342212C>T - NPHS1(NM_004646.3):c.349G>A (p.E117K) - NPHS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.349G>A benign r.(?) p.(Glu117Lys) Unknown g.36342212C>T - NPHS1(NM_004646.3):c.349G>A (p.E117K) - NPHS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.349G>A benign r.(?) p.(Glu117Lys) Unknown g.36342212C>T - NPHS1(NM_004646.3):c.349G>A (p.E117K) - NPHS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.349G>A likely benign r.(?) p.(Glu117Lys) Both (homozygous) g.36342212C>T - - - NPHS1_000001 - PubMed: Aya 2000 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - NPHS Pat1 PubMed: Aya 2000 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives - - Japan - - 0 - - 1 Johan den Dunnen
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