MCID: CNG116
MIFTS: 27

Congenital Nephrotic Syndrome Finnish Type malady

Rare diseases, Nephrological diseases categories

Aliases & Classifications for Congenital Nephrotic Syndrome Finnish Type

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Sources:
41NIH Rare Diseases, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Congenital Nephrotic Syndrome Finnish Type, Aliases & Descriptions:

Name: Congenital Nephrotic Syndrome Finnish Type 41
Congenital Nephrotic Syndrome, Finnish Type 41 47 22
Finnish Congenital Nephrosis 41 47
Nphs1 41 43
Nephrosis 1, Congenital, Finnish Type 41
 
Finnish Congenital Nephrotic Syndrome 60
Congenital Nephrotic Syndrome 1 41
Nephrosis, Congenital 41
Cnf 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Nephrological diseases
Orphanet: 47 
Rare renal diseases


Characteristics (Orphanet epidemiological data):

47
congenital nephrotic syndrome, finnish type:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age


External Ids:

Orphanet47 839
MESH via Orphanet34 C535761
ICD10 via Orphanet26 N04
UMLS via Orphanet61 C0403399

Summaries for Congenital Nephrotic Syndrome Finnish Type

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NIH Rare Diseases:41 Congenital nephrotic syndrome of finnish type is a genetic condition of the kidney that presents in utero or within the first three months of life. the syndrome is characterized by nephrotic syndrome (a group of symptoms including protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, and swelling), which progresses rapidly to end-stage kidney disease.  although more commonly seen in individuals of finnish descent, congenital nephrotic syndrome of finnish type has been reported worldwide. congenital nephrotic syndrome of finnish type is inherited in an autosomal recessive fashion and is caused by mutations in a gene called nphs1. at this time, kidney transplantation seems to be the only treatment available for this condition. last updated: 8/31/2009

MalaCards based summary: Congenital Nephrotic Syndrome Finnish Type, also known as congenital nephrotic syndrome, finnish type, is related to nephrotic syndrome and proteinuria, and has symptoms including multicystic kidney dysplasia, proteinuria and nephrotic syndrome. An important gene associated with Congenital Nephrotic Syndrome Finnish Type is NPHS1 (nephrosis 1, congenital, Finnish type (nephrin)). Affiliated tissues include kidney.

Related Diseases for Congenital Nephrotic Syndrome Finnish Type

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Graphical network of the top 20 diseases related to Congenital Nephrotic Syndrome Finnish Type:



Diseases related to congenital nephrotic syndrome finnish type

Symptoms for Congenital Nephrotic Syndrome Finnish Type

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Symptoms:

 47
  • multicystic kidney/renal dysplasia
  • nephrotic syndrome
  • proteinuria
  • autosomal recessive inheritance

HPO human phenotypes related to Congenital Nephrotic Syndrome Finnish Type:

id Description Frequency HPO Source Accession
1 multicystic kidney dysplasia hallmark (90%) HP:0000003
2 proteinuria hallmark (90%) HP:0000093
3 nephrotic syndrome hallmark (90%) HP:0000100

Drugs & Therapeutics for Congenital Nephrotic Syndrome Finnish Type

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Drug clinical trials:

Search ClinicalTrials for Congenital Nephrotic Syndrome Finnish Type

Search NIH Clinical Center for Congenital Nephrotic Syndrome Finnish Type

Genetic Tests for Congenital Nephrotic Syndrome Finnish Type

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Genetic tests related to Congenital Nephrotic Syndrome Finnish Type:

id Genetic test Affiliating Genes
1 Finnish Congenital Nephrotic Syndrome22

Anatomical Context for Congenital Nephrotic Syndrome Finnish Type

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MalaCards organs/tissues related to Congenital Nephrotic Syndrome Finnish Type:

31
Kidney

Animal Models for Congenital Nephrotic Syndrome Finnish Type or affiliated genes

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Publications for Congenital Nephrotic Syndrome Finnish Type

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Articles related to Congenital Nephrotic Syndrome Finnish Type:

idTitleAuthorsYear
1
Novel human pathological mutations. Gene symbol: NPHS1. Disease: congenital nephrotic syndrome, Finnish type. (19309778)
2009
2
Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites. (10577936)
1999

Variations for Congenital Nephrotic Syndrome Finnish Type

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Clinvar genetic disease variations for Congenital Nephrotic Syndrome Finnish Type:

6 (show all 119)
id Gene Variation Type Significance SNP ID Assembly Location
1NPHS1NM_004646.3(NPHS1): c.-475_-468delGAGAGAGAdeletionLikely pathogenicrs386833860GRCh37Chr 19, 36343207: 36343214
2NPHS1NM_004646.3(NPHS1): c.1019C> A (p.Pro340His)single nucleotide variantLikely pathogenicrs386833861GRCh37Chr 19, 36339690: 36339690
3NPHS1NM_004646.3(NPHS1): c.1040G> A (p.Gly347Glu)single nucleotide variantLikely pathogenicrs386833862GRCh37Chr 19, 36339669: 36339669
4NPHS1NM_004646.3(NPHS1): c.1048T> C (p.Ser350Pro)single nucleotide variantLikely pathogenicrs386833863GRCh37Chr 19, 36339661: 36339661
5NPHS1NM_004646.3(NPHS1): c.1096A> C (p.Ser366Arg)single nucleotide variantLikely pathogenicrs386833864GRCh37Chr 19, 36339613: 36339613
6NPHS1NM_004646.3(NPHS1): c.1099C> T (p.Arg367Cys)single nucleotide variantLikely pathogenicrs386833865GRCh37Chr 19, 36339610: 36339610
7NPHS1NM_004646.3(NPHS1): c.1100G> A (p.Arg367His)single nucleotide variantLikely pathogenicrs200905486GRCh37Chr 19, 36339609: 36339609
8NPHS1NM_004646.3(NPHS1): c.1102C> T (p.Pro368Ser)single nucleotide variantLikely pathogenicrs386833866GRCh37Chr 19, 36339607: 36339607
9NPHS1NM_004646.3(NPHS1): c.1103C> T (p.Pro368Leu)single nucleotide variantLikely pathogenicrs386833867GRCh37Chr 19, 36339606: 36339606
10NPHS1NM_004646.3(NPHS1): c.1126C> G (p.Leu376Val)single nucleotide variantLikely pathogenicrs386833868GRCh37Chr 19, 36339583: 36339583
11NPHS1NM_004646.3(NPHS1): c.1134G> A (p.Trp378Ter)single nucleotide variantLikely pathogenicrs386833869GRCh37Chr 19, 36339575: 36339575
12NPHS1NM_004646.3(NPHS1): c.1135C> T (p.Arg379Trp)single nucleotide variantLikely pathogenicrs386833871GRCh37Chr 19, 36339574: 36339574
13NPHS1NM_004646.3(NPHS1): c.1135_1136delCG (p.Arg379Alafs)deletionLikely pathogenicrs386833870GRCh37Chr 19, 36339573: 36339574
14NPHS1NM_004646.3(NPHS1): c.1138C> T (p.Gln380Ter)single nucleotide variantLikely pathogenicrs386833872GRCh37Chr 19, 36339571: 36339571
15NPHS1NM_004646.3(NPHS1): c.1219C> T (p.Arg407Trp)single nucleotide variantLikely pathogenicrs386833874GRCh37Chr 19, 36339251: 36339251
16NPHS1NM_004646.3(NPHS1): c.121_122delCT (p.Leu41Aspfs)deletionPathogenicrs386833873GRCh37Chr 19, 36342511: 36342512
17NPHS1NM_004646.3(NPHS1): c.1234G> T (p.Gly412Cys)single nucleotide variantLikely pathogenicrs142008044GRCh37Chr 19, 36339236: 36339236
18NPHS1NM_004646.3(NPHS1): c.1250G> T (p.Cys417Phe)single nucleotide variantLikely pathogenicrs386833875GRCh37Chr 19, 36339220: 36339220
19NPHS1NM_004646.3(NPHS1): c.1275delC (p.Lys426Argfs)deletionLikely pathogenicrs386833876GRCh37Chr 19, 36339195: 36339195
20NPHS1NM_004646.3(NPHS1): c.1292dupA (p.Ser432Valfs)duplicationLikely pathogenicrs386833877GRCh37Chr 19, 36339177: 36339178
21NPHS1NM_004646.3(NPHS1): c.1307_1308dupAC (p.Val437Thrfs)duplicationLikely pathogenicrs386833878GRCh37Chr 19, 36339161: 36339162
22NPHS1NM_004646.3(NPHS1): c.1337T> A (p.Ile446Asn)single nucleotide variantLikely pathogenicrs386833879GRCh37Chr 19, 36339046: 36339046
23NPHS1NM_004646.3(NPHS1): c.1379G> A (p.Arg460Gln)single nucleotide variantLikely pathogenicrs386833880GRCh37Chr 19, 36339004: 36339004
24NPHS1NM_004646.3(NPHS1): c.1394G> A (p.Cys465Tyr)single nucleotide variantLikely pathogenicrs386833881GRCh37Chr 19, 36338989: 36338989
25NPHS1NM_004646.3(NPHS1): c.139delG (p.Ala47Profs)deletionLikely pathogenicrs386833882GRCh37Chr 19, 36342494: 36342494
26NPHS1NM_004646.3(NPHS1): c.1481delC (p.Ser494Cysfs)deletionLikely pathogenicrs386833883GRCh37Chr 19, 36337056: 36337056
27NPHS1NM_004646.3(NPHS1): c.1555C> T (p.Pro519Ser)single nucleotide variantLikely pathogenicrs386833884GRCh37Chr 19, 36336982: 36336982
28NPHS1NM_004646.3(NPHS1): c.1583G> T (p.Cys528Phe)single nucleotide variantLikely pathogenicrs386833885GRCh37Chr 19, 36336954: 36336954
29NPHS1NM_004646.3(NPHS1): c.1672C> T (p.Arg558Cys)single nucleotide variantLikely pathogenicrs386833886GRCh37Chr 19, 36336656: 36336656
30NPHS1NM_004646.3(NPHS1): c.1701C> A (p.Cys567Ter)single nucleotide variantLikely pathogenicrs386833887GRCh37Chr 19, 36336627: 36336627
31NPHS1NM_004646.3(NPHS1): c.1707C> G (p.Ser569Arg)single nucleotide variantLikely pathogenicrs386833888GRCh37Chr 19, 36336621: 36336621
32NPHS1NM_004646.3(NPHS1): c.1715G> A (p.Ser572Asn)single nucleotide variantLikely pathogenicrs386833889GRCh37Chr 19, 36336613: 36336613
33NPHS1NM_004646.3(NPHS1): c.1724C> A (p.Pro575Gln)single nucleotide variantLikely pathogenicrs386833890GRCh37Chr 19, 36336604: 36336604
34NPHS1NM_004646.3: c.1758-15_1778del36deletionLikely pathogenicrs386833891GRCh37Chr 19, 36336422: 36336457
35NPHS1NM_004646.3(NPHS1): c.1760T> G (p.Leu587Arg)single nucleotide variantLikely pathogenicrs386833892GRCh37Chr 19, 36336440: 36336440
36NPHS1NM_004646.3(NPHS1): c.1801G> C (p.Gly601Arg)single nucleotide variantLikely pathogenicrs386833893GRCh37Chr 19, 36336399: 36336399
37NPHS1NM_004646.3(NPHS1): c.1829T> A (p.Leu610Gln)single nucleotide variantLikely pathogenicrs386833894GRCh37Chr 19, 36336371: 36336371
38NPHS1NM_004646.3(NPHS1): c.1868G> T (p.Cys623Phe)single nucleotide variantLikely pathogenicrs386833895GRCh37Chr 19, 36336332: 36336332
39NPHS1NM_004646.3(NPHS1): c.1905C> T (p.Ser635=)single nucleotide variantLikely pathogenicrs386833896GRCh37Chr 19, 36336295: 36336295
40NPHS1NM_004646.3(NPHS1): c.191G> C (p.Trp64Ser)single nucleotide variantLikely pathogenicrs386833897GRCh37Chr 19, 36342442: 36342442
41NPHS1NM_004646.3(NPHS1): c.1928T> C (p.Leu643Pro)single nucleotide variantLikely pathogenicrs386833898GRCh37Chr 19, 36336272: 36336272
42NPHS1NM_004646.3(NPHS1): c.1954C> T (p.Gln652Ter)single nucleotide variantLikely pathogenicrs386833899GRCh37Chr 19, 36335338: 36335338
43NPHS1NM_004646.3(NPHS1): c.2019C> A (p.Asn673Lys)single nucleotide variantLikely pathogenicrs191807913GRCh37Chr 19, 36335273: 36335273
44NPHS1NM_004646.3(NPHS1): c.2043G> T (p.Trp681Cys)single nucleotide variantLikely pathogenicrs386833900GRCh37Chr 19, 36335249: 36335249
45NPHS1NM_004646.3(NPHS1): c.2071+2T> Csingle nucleotide variantLikely pathogenicrs386833901GRCh37Chr 19, 36335219: 36335219
46NPHS1NM_004646.3(NPHS1): c.2072-6C> Gsingle nucleotide variantLikely pathogenicrs200253809GRCh37Chr 19, 36335151: 36335151
47NPHS1NM_004646.3(NPHS1): c.2126T> G (p.Val709Gly)single nucleotide variantLikely pathogenicrs386833902GRCh37Chr 19, 36335091: 36335091
48NPHS1NM_004646.3(NPHS1): c.2156_2163delTGCACTGC (p.Leu719Profs)deletionLikely pathogenicrs386833903GRCh37Chr 19, 36335054: 36335061
49NPHS1NM_004646.3(NPHS1): c.2160dupC (p.Cys721Leufs)duplicationLikely pathogenicrs386833904GRCh37Chr 19, 36335056: 36335057
50NPHS1NM_004646.3(NPHS1): c.2171C> G (p.Ser724Cys)single nucleotide variantLikely pathogenicrs386833905GRCh37Chr 19, 36335046: 36335046
51NPHS1NM_004646.3(NPHS1): c.2172_2173delTG (p.Glu725Glyfs)deletionLikely pathogenicrs386833906GRCh37Chr 19, 36335044: 36335045
52NPHS1NM_004646.3(NPHS1): c.2216C> T (p.Ala739Val)single nucleotide variantLikely pathogenicrs386833907GRCh37Chr 19, 36334492: 36334492
53NPHS1NM_004646.3(NPHS1): c.2225T> C (p.Ile742Thr)single nucleotide variantLikely pathogenicrs386833908GRCh37Chr 19, 36334483: 36334483
54NPHS1NM_004646.3(NPHS1): c.2227C> T (p.Arg743Cys)single nucleotide variantLikely pathogenicrs386833909GRCh37Chr 19, 36334481: 36334481
55NPHS1NM_004646.3(NPHS1): c.2227delC (p.Arg743Valfs)deletionLikely pathogenicrs386833910GRCh37Chr 19, 36334481: 36334481
56NPHS1NM_004646.3(NPHS1): c.2404C> T (p.Arg802Trp)single nucleotide variantLikely pathogenicrs386833911GRCh37Chr 19, 36333383: 36333383
57NPHS1NM_004646.3(NPHS1): c.2405G> C (p.Arg802Pro)single nucleotide variantLikely pathogenicrs114203578GRCh37Chr 19, 36333382: 36333382
58NPHS1NM_004646.3(NPHS1): c.2417C> A (p.Ala806Asp)single nucleotide variantLikely pathogenicrs386833912GRCh37Chr 19, 36333370: 36333370
59NPHS1NM_004646.3(NPHS1): c.2442C> G (p.Tyr814Ter)single nucleotide variantLikely pathogenicrs386833913GRCh37Chr 19, 36333345: 36333345
60NPHS1NM_004646.3(NPHS1): c.248dupA (p.Tyr83Terfs)duplicationLikely pathogenicrs386833914GRCh37Chr 19, 36342384: 36342385
61NPHS1NM_004646.3(NPHS1): c.2491C> T (p.Arg831Cys)single nucleotide variantLikely pathogenicrs386833915GRCh37Chr 19, 36333296: 36333296
62NPHS1NM_004646.3(NPHS1): c.2495T> C (p.Leu832Pro)single nucleotide variantLikely pathogenicrs386833916GRCh37Chr 19, 36333292: 36333292
63NPHS1NM_004646.3(NPHS1): c.2500G> T (p.Val834Phe)single nucleotide variantLikely pathogenicrs386833917GRCh37Chr 19, 36333287: 36333287
64NPHS1NM_004646.3(NPHS1): c.2515delC (p.Gln839Argfs)deletionLikely pathogenicrs386833918GRCh37Chr 19, 36333174: 36333174
65NPHS1NM_004646.3(NPHS1): c.2548_2557delGCTGCAGCTG (p.Ala850Glufs)deletionLikely pathogenicrs386833919GRCh37Chr 19, 36333132: 36333141
66NPHS1NM_004646.3(NPHS1): c.2596C> T (p.Arg866Ter)single nucleotide variantLikely pathogenicrs386833920GRCh37Chr 19, 36333093: 36333093
67NPHS1NM_004646.3(NPHS1): c.2606_2607dupCC (p.Asn870Profs)duplicationLikely pathogenicrs386833921GRCh37Chr 19, 36333081: 36333082
68NPHS1NM_004646.3(NPHS1): c.2618_2620delTCAinsCC (p.Phe873Serfs)indelLikely pathogenicrs386833922GRCh37Chr 19, 36333069: 36333071
69NPHS1NM_004646.3(NPHS1): c.2625G> A (p.Trp875Ter)single nucleotide variantLikely pathogenicrs386833923GRCh37Chr 19, 36333064: 36333064
70NPHS1NM_004646.3: c.2664-4_2670delCTAGGTACACGdeletionLikely pathogenicrs386833924GRCh37Chr 19, 36332762: 36332772
71NPHS1NM_004646.3(NPHS1): c.2769_2775delCAACGCC (p.Asn924Leufs)deletionLikely pathogenicrs386833925GRCh37Chr 19, 36332657: 36332663
72NPHS1NM_004646.3(NPHS1): c.2783C> A (p.Ser928Ter)single nucleotide variantLikely pathogenicrs386833926GRCh37Chr 19, 36332649: 36332649
73NPHS1NM_004646.3(NPHS1): c.2815+5G> Asingle nucleotide variantLikely pathogenicrs386833927GRCh37Chr 19, 36332612: 36332612
74NPHS1NM_004646.3(NPHS1): c.2816-4_2822delATAGGCCGCCCdeletionLikely pathogenicrs386833928GRCh37Chr 19, 36330503: 36330513
75NPHS1NM_004646.3(NPHS1): c.286C> G (p.Leu96Val)single nucleotide variantLikely pathogenicrs386833929GRCh37Chr 19, 36342275: 36342275
76NPHS1NM_004646.3(NPHS1): c.2927+1G> Asingle nucleotide variantLikely pathogenicrs386833930GRCh37Chr 19, 36330397: 36330397
77NPHS1NM_004646.3(NPHS1): c.2944dupA (p.Thr982Asnfs)duplicationLikely pathogenicrs386833931GRCh37Chr 19, 36330303: 36330304
78NPHS1NM_004646.3(NPHS1): c.313G> A (p.Asp105Asn)single nucleotide variantLikely pathogenicrs386833932GRCh37Chr 19, 36342248: 36342248
79NPHS1NM_004646.3(NPHS1): c.319G> A (p.Ala107Thr)single nucleotide variantLikely pathogenicrs386833933GRCh37Chr 19, 36342242: 36342242
80NPHS1NM_004646.3(NPHS1): c.320C> T (p.Ala107Val)single nucleotide variantLikely pathogenicrs386833934GRCh37Chr 19, 36342241: 36342241
81NPHS1NM_004646.3(NPHS1): c.3250delG (p.Val1084Serfs)deletionLikely pathogenicrs386833935GRCh37Chr 19, 36322581: 36322581
82NPHS1NM_004646.3(NPHS1): c.3250dupG (p.Val1084Glyfs)duplicationLikely pathogenicrs386833936GRCh37Chr 19, 36322580: 36322581
83NPHS1NM_004646.3(NPHS1): c.3356_3357dupGG (p.Thr1120Glyfs)duplicationLikely pathogenicrs386833937GRCh37Chr 19, 36322227: 36322228
84NPHS1NM_004646.3(NPHS1): c.3388-2A> Gsingle nucleotide variantLikely pathogenicrs386833938GRCh37Chr 19, 36322050: 36322050
85NPHS1NM_004646.3(NPHS1): c.3418C> T (p.Arg1140Cys)single nucleotide variantLikely pathogenicrs143092783GRCh37Chr 19, 36322018: 36322018
86NPHS1NM_004646.3(NPHS1): c.3482G> T (p.Gly1161Val)single nucleotide variantLikely pathogenicrs386833939GRCh37Chr 19, 36321858: 36321858
87NPHS1NM_004646.3(NPHS1): c.3595-2A> Gsingle nucleotide variantLikely pathogenicrs386833940GRCh37Chr 19, 36317549: 36317549
88NPHS1NM_004646.3: c.3720_*9del16deletionLikely pathogenicrs386833941GRCh37Chr 19, 36317407: 36317422
89NPHS1NM_004646.3(NPHS1): c.398-1G> Asingle nucleotide variantLikely pathogenicrs386833942GRCh37Chr 19, 36341992: 36341992
90NPHS1NM_004646.3(NPHS1): c.468C> G (p.Tyr156Ter)single nucleotide variantLikely pathogenicrs386833943GRCh37Chr 19, 36341921: 36341921
91NPHS1NM_004646.3(NPHS1): c.479G> C (p.Cys160Ser)single nucleotide variantLikely pathogenicrs386833944GRCh37Chr 19, 36341910: 36341910
92NPHS1NM_004646.3(NPHS1): c.500C> T (p.Pro167Leu)single nucleotide variantLikely pathogenicrs386833945GRCh37Chr 19, 36341889: 36341889
93NPHS1NM_004646.3(NPHS1): c.512T> A (p.Ile171Asn)single nucleotide variantLikely pathogenicrs386833946GRCh37Chr 19, 36341877: 36341877
94NPHS1NM_004646.3(NPHS1): c.515_517delCCA (p.Thr172del)deletionLikely pathogenicrs386833947GRCh37Chr 19, 36341872: 36341874
95NPHS1NM_004646.3(NPHS1): c.516delC (p.Ile173Phefs)deletionLikely pathogenicrs386833948GRCh37Chr 19, 36341873: 36341873
96NPHS1NM_004646.3(NPHS1): c.518T> A (p.Ile173Asn)single nucleotide variantLikely pathogenicrs386833949GRCh37Chr 19, 36341871: 36341871
97NPHS1NM_004646.3(NPHS1): c.526+5G> Csingle nucleotide variantLikely pathogenicrs386833950GRCh37Chr 19, 36341858: 36341858
98NPHS1NM_004646.3(NPHS1): c.532C> T (p.Gln178Ter)single nucleotide variantLikely pathogenicrs386833951GRCh37Chr 19, 36341342: 36341342
99NPHS1NM_004646.3(NPHS1): c.534delG (p.Thr179Glnfs)deletionLikely pathogenicrs386833952GRCh37Chr 19, 36341340: 36341340
100NPHS1NM_004646.3(NPHS1): c.574C> T (p.Gln192Ter)single nucleotide variantLikely pathogenicrs386833953GRCh37Chr 19, 36341300: 36341300
101NPHS1NM_004646.3(NPHS1): c.58+1G> Tsingle nucleotide variantLikely pathogenicrs386833954GRCh37Chr 19, 36342681: 36342681
102NPHS1NM_004646.3(NPHS1): c.609-2A> Csingle nucleotide variantLikely pathogenicrs386833955GRCh37Chr 19, 36340557: 36340557
103NPHS1NM_004646.3(NPHS1): c.614_621delCACCCCGGinsTT (p.Thr205_Arg207delinsIle)indelLikely pathogenicrs386833956GRCh37Chr 19, 36340543: 36340550
104NPHS1NM_004646.3(NPHS1): c.661_662delAG (p.Ser221Profs)deletionLikely pathogenicrs386833957GRCh37Chr 19, 36340502: 36340503
105NPHS1NM_004646.3(NPHS1): c.692C> A (p.Ser231Ter)single nucleotide variantLikely pathogenicrs386833958GRCh37Chr 19, 36340472: 36340472
106NPHS1NM_004646.3(NPHS1): c.736G> T (p.Glu246Ter)single nucleotide variantLikely pathogenicrs386833959GRCh37Chr 19, 36340242: 36340242
107NPHS1NM_004646.3(NPHS1): c.766C> T (p.Arg256Trp)single nucleotide variantLikely pathogenicrs386833960GRCh37Chr 19, 36340212: 36340212
108NPHS1NM_004646.3(NPHS1): c.808G> T (p.Gly270Cys)single nucleotide variantLikely pathogenicrs386833961GRCh37Chr 19, 36340170: 36340170
109NPHS1NM_004646.3(NPHS1): c.886G> A (p.Ala296Thr)single nucleotide variantLikely pathogenicrs386833962GRCh37Chr 19, 36340004: 36340004
110NPHS1NPHS1, 2-BP DEL, 121CTdeletionPathogenic
111NPHS1NM_004646.3(NPHS1): c.3325C> T (p.Arg1109Ter)single nucleotide variantPathogenicrs137853042GRCh37Chr 19, 36322260: 36322260
112NPHS1NPHS1, 2-BP INS, 1306ACinsertionPathogenic
113NPHS1NPHS1, 1-BP INS, 3250GinsertionPathogenic
114NPHS1NPHS1, 1-BP DEL, 1481CdeletionPathogenic
115NPHS1NPHS1, 1-BP DEL, 3250GdeletionPathogenic
116NPHS1NM_004646.3(NPHS1): c.1339G> A (p.Glu447Lys)single nucleotide variantPathogenicrs28939695GRCh37Chr 19, 36339044: 36339044
117NPHS1NM_004646.3(NPHS1): c.3478C> T (p.Arg1160Ter)single nucleotide variantPathogenicrs267606919GRCh37Chr 19, 36321958: 36321958
118NPHS1NM_004646.3(NPHS1): c.793T> C (p.Cys265Arg)single nucleotide variantPathogenicrs267606917GRCh37Chr 19, 36340185: 36340185
119NPHS1NM_004646.3(NPHS1): c.2464G> A (p.Val822Met)single nucleotide variantPathogenicrs267606918GRCh37Chr 19, 36333323: 36333323

Expression for genes affiliated with Congenital Nephrotic Syndrome Finnish Type

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Search GEO for disease gene expression data for Congenital Nephrotic Syndrome Finnish Type.

Pathways for genes affiliated with Congenital Nephrotic Syndrome Finnish Type

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Compounds for genes affiliated with Congenital Nephrotic Syndrome Finnish Type

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GO Terms for genes affiliated with Congenital Nephrotic Syndrome Finnish Type

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Products for genes affiliated with Congenital Nephrotic Syndrome Finnish Type

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  • Antibodies
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  • Antibodies
  • Proteins
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Sources for Congenital Nephrotic Syndrome Finnish Type

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet