NPHS1 E117K - GET-Evidence

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

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(NPHS1 Glu117Lys)

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

  • T @ chr19:36342212: 22.7% (2443/10758) in EVS
  • T @ chr19:41034051: 25.8% (33/128) in GET-Evidence
  • Frequency shown in summary reports: 22.7% (2443/10758)



hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr19:36342212



hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het T @ chr19:36342212


hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
hom T @ chr19:36342212


hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr19:36342212


hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het T @ chr19:36342212



hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom T @ chr19:36342212


hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het T @ chr19:36342212


hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het T @ chr19:36342212


hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr19:36342212




hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr19:36342212


hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr19:36342212


hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het T @ chr19:36342212



huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr19:36342212


huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr19:36342212


huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom T @ chr19:36342212


huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het T @ chr19:36342212


huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr19:36342212


GS06994 - var-GS06994-1100-36-ASM
het T @ chr19:41034052


GS07357 - var-GS07357-1100-36-ASM
het T @ chr19:41034052


GS10851 - var-GS10851-1100-36-ASM
hom T @ chr19:41034052


GS12004 - var-GS12004-1100-36-ASM
het T @ chr19:41034052


GS18526 - var-GS18526-1100-36-ASM
het T @ chr19:41034052


GS18537 - var-GS18537-1100-36-ASM
het T @ chr19:41034052


GS18558 - var-GS18558-1100-36-ASM
het T @ chr19:41034052


GS18940 - var-GS18940-1100-36-ASM
hom T @ chr19:41034052


GS18942 - var-GS18942-1100-36-ASM
hom T @ chr19:41034052


GS18956 - var-GS18956-1100-36-ASM
het T @ chr19:41034052


GS19649 - var-GS19649-1100-36-ASM
hom T @ chr19:41034052


GS19704 - var-GS19704-1100-36-ASM
het T @ chr19:41034052


GS19735 - var-GS19735-1100-36-ASM
hom T @ chr19:41034052


GS20502 - var-GS20502-1100-36-ASM
hom T @ chr19:41034052


Other external references

  • rs3814995
  • Score: 0.997 (probably damaging)
    Web search results (10 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 ...
    type (CNF, NPHS1) begins already before birth. Intrauterine protein ... (AFP) levels in amniotic fluid, which is used in the prenatal diagnosis of NPHS1. ...
  • Biological Research - A pilot study on genetic variation in ...
    NPHS1 codes for nephrin, a protein that is expressed mainly in the kidney ... the three non-synonymous polymorphisms (E117K, R408Q and N1077S searched for an ...
  • Nephrin – mutations in Congenital Nephrotic Syndrome of the ...
    The NPHS1 gene codes for a transmembrane protein of the Ig super family, called ... 349 (E117K on protein level), has been shown to modify the clinical ...
  • 中国人先天性肾病综合征NPHS1基因突变
    中国人先天性肾病综合征NPHS1基因突变 ... 同时还在先证者发现了4 种碱基变异: E117K (rs3814995)、S1105S(rs2071327)、IVS27+45c>t和IVS8+68 a>g,经比对前3种均为单核苷酸多态性,位于内含子内的变异(IVS8+68 a>g)意义有待进一步研究。 ...
  • Type III 95%
    ... (s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R 14 ... Polymorphism (dbSNP:rs3865205) 9920877 ST5 P78524 K316N 322 VAR_027101 STE20 (0. ...
  • [NPHS1 mutations in a Chinese family with congenital ...
    OBJECTIVE: Congenital nephrotic syndrome (CNS) is defined as heavy proteinuria or nephrotic syndrome occurring before 3 months of age.
  • A pilot study on genetic variation in purine-rich elements in ...
    synonymous polymorphisms (E117K, R408Q and N1077S searched for an ... to insulin in the NPHS1 promoter region. In this work we identified a purine-rich. GAGA ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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