{{Rsnum
|rsid=34482796
|Gene=SPINK5
|Chromosome=5
|position=148097988
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.4417
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=SPINK5
}}{{Venter SNP
|rsid=34482796
|allele=T
|frequency=
|uid=1103654252238
|type=heterozygous_SNP
|hugo=SPINK5
|ensembl gene=ENSG00000133710
|ensembl transcript=ENST00000359874
|sift=TOLERATED
|disease=Defects in SPINK5 are the cause of Netherton syndrome (NS) (MIM:256500). NS is a severe autosomal recessive disorder, it is characterized by congenital ichthyosis with defective cornification, a specific hair shaft defect known as trichorrexis invaginata or ""bamboo hair"", atopic dermatitis, and hayfever. High post-natal mortality is due to failure to thrive, infections and hypernatraemic dehydration.
}}

{{GET Evidence
|gene=SPINK5
|aa_change=Ala335Val
|aa_change_short=A335V
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs34482796
|overall_frequency_n=4240
|overall_frequency_d=9640
|overall_frequency=0.439834
|n_genomes=33
|n_genomes_annotated=0
|n_haplomes=45
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=2
|autoscore=2
|n_web_uneval=1
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}