Full data view for gene NPHS1

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

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

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 at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.2971G>C r.(?) p.(Val991Leu) Unknown - VUS g.36330277C>G g.35839375C>G - - NPHS1_000004 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.2971G>C r.(?) p.(Val991Leu) Both (homozygous) - VUS g.36330277C>G g.35839375C>G - - NPHS1_000004 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.2971G>C r.(?) p.(Val991Leu) Unknown - VUS g.36330277C>G g.35839375C>G - - NPHS1_000004 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.2971G>C r.(?) p.(Val991Leu) Unknown - VUS g.36330277C>G g.35839375C>G - - NPHS1_000004 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.2971G>C r.(?) p.(Val991Leu) Unknown - VUS g.36330277C>G g.35839375C>G - - NPHS1_000004 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.2971G>C r.(?) p.(Val991Leu) Unknown - VUS g.36330277C>G g.35839375C>G - - NPHS1_000004 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.2971G>C r.(?) p.(Val991Leu) Both (homozygous) - VUS g.36330277C>G g.35839375C>G - - NPHS1_000004 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
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