Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs752941297
rs752941297
SPINK5
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
dbSNP: rs752941297
rs752941297
SPINK5
0.720 GeneticVariation BEFREE The c.891C>T synonymous transition in SPINK5 induces exon 11 (E11) skipping and causes Netherton syndrome (NS). 25665175

2015
dbSNP: rs752941297
rs752941297
SPINK5
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
dbSNP: rs752941297
rs752941297
SPINK5
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
dbSNP: rs752941297
rs752941297
SPINK5
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