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 |
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 |
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 |
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 |
|
|
|
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 |
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 |
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 |
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 |
|
|
|
rs753621591
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs761490126
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs766978225
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|