NPHS1 N1077S - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

NPHS1 N1077S

(NPHS1 Asn1077Ser)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • C @ chr19:36322601: 10.6% (1143/10758) in EVS
  • C @ chr19:41014440: 10.2% (13/128) in GET-Evidence
  • Frequency shown in summary reports: 10.6% (1143/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het C @ chr19:36322601

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het C @ chr19:36322601

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het C @ chr19:36322601

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het C @ chr19:36322601

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom C @ chr19:36322601

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom C @ chr19:36322601

 

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het C @ chr19:36322601

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr19:36322601

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het C @ chr19:36322601

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr19:41014441

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chr19:41014441

 

GS18508 - var-GS18508-1100-36-ASM
het C @ chr19:41014441

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr19:41014441

 

GS19026 - var-GS19026-1100-36-ASM
het C @ chr19:41014441

 

GS21767 - var-GS21767-1100-36-ASM
het C @ chr19:41014441

 

Other external references
 

    dbSNP
  • rs4806213
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.993 (probably damaging)
    Web search results (6 hits -- see all)
  • Defective nephrin trafficking caused by missense mutations in ...
    The disease gene (NPHS1) encodes nephrin, a podocyte transmembrane protein that is an ... Recently, the causative gene for NPHS1 was cloned and shown to encode ...
    hmg.oxfordjournals.org/cgi/content/full/10/23/2637
  • Result Content View
    We performed a mutation analysis of NPHS1 and NPHS2 genes in 24 unrelated ... Mutations in NPHS1 gene were found in 22 patients with early-onset nephrotic ...
    www.abstracts2view.com/era/view.php?nu=ERA4L_1534
  • Biological Research - A pilot study on genetic variation in ...
    NPHS1 codes for nephrin, a protein that is expressed mainly in the kidney ... synonymous polymorphisms (E117K, R408Q and N1077S searched for an association of ...
    scielo.cl/scielo.php?...&lng=es&nrm=iso&tlng=es
  • Type III 95%
    ... (s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R 14 ... (dbSNP:rs9536041) KIAA1377 Q9P2H0 N1077S 1072 VAR_027370 CK2 (0.765) PIKK (0.535) ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_95.txt
  • A pilot study on genetic variation in purine-rich elements in ...
    R408Q and N1077S searched for an. association of polymorphisms of the ... to insulin in the NPHS1 promoter region. In this work we identified a ...
    www.scielo.cl/pdf/bres/v40n3/art10.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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