NPHS1 N1077S - GET-Evidence

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

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NPHS1 N1077S

(NPHS1 Asn1077Ser)

You are viewing an old version of this page that was saved on November 29, 2012 at 6:39am by Genome Importing Robot.

Short summary


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


Insufficiently evaluated not reviewed

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

Inheritance pattern


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)



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



Added in this revision:

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

  • rs4806213
  • 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 ...
  • 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 ...
  • 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 ...
  • 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) ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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