rs752941297
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
We report the functional characterization of a previously unrecognized synonymous variant, c.891C>T (p.Cys297Cys), identified in the SPINK5 exon 11 of an NS patient.
|
22377713 |
2012 |
rs752941297
|
|
|
0.720 |
GeneticVariation |
BEFREE |
We identified a new and frequent synonymous mutation c.891C>T (p.Cys297Cys) in exon 11 of the 12 NS patients.
|
22089833 |
2012 |
rs752941297
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
We identified a new and frequent synonymous mutation c.891C>T (p.Cys297Cys) in exon 11 of the 12 NS patients.
|
22089833 |
2012 |
rs2303067
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This finding indicates that haploinsufficiency of SPINK5 can cause the NS phenotype in the presence of one null mutation with homozygous G1258A polymorphisms in SPINK5, and this could impair the function of LEKTI and therefore acts as a true mutation.
|
19438860 |
2009 |
rs1131691490
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.
|
11511292 |
2001 |
rs1561701382
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.
|
11511292 |
2001 |
rs199757347
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.
|
11511292 |
2001 |
rs752941297
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
The c.891C>T synonymous transition in SPINK5 induces exon 11 (E11) skipping and causes Netherton syndrome (NS).
|
25665175 |
2015 |
rs752941297
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The c.891C>T synonymous transition in SPINK5 induces exon 11 (E11) skipping and causes Netherton syndrome (NS).
|
25665175 |
2015 |
rs1131691490
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.
|
11841556 |
2002 |
rs1561701382
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.
|
11841556 |
2002 |
rs777436361
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Lethal Netherton syndrome due to homozygous p.Arg371X mutation in SPINK5.
|
23331056 |
2014 |
rs199757347
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Intrafamily and Interfamilial Phenotype Variation and Immature Immunity in Patients With Netherton Syndrome and Finnish SPINK5 Founder Mutation.
|
26865388 |
2016 |
rs924297783
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we report a new homozygous SPINK5 mutation, p.Gln333X, responsible for NS in affected members of two closely related Turkish families, and provide an overview of the genotype-phenotype correlation in this condition.
|
21564178 |
2011 |
rs121908387
|
|
|
0.710 |
GeneticVariation |
BEFREE |
DNA analysis showed that the patient harboured the compound heterozygous mutations R790X and 1220+1 G-->C in the SPINK5 gene, compatible with the diagnosis of Netherton syndrome (NS).
|
16120162 |
2005 |
rs121908387
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs1554104853
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1561680487
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1561684604
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1561686960
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1561695740
|
|
CT |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs368134354
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs565782662
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs565782662
|
|
GA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587777749
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|