{{Rsnum
|rsid=3777134
|Gene=SPINK5
|Chromosome=5
|position=148118456
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.4936
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=SPINK5
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 13.3 | 48.7 | 38.1
| HCB | 30.1 | 44.9 | 25.0
| JPT | 27.4 | 56.6 | 15.9
| YRI | 44.9 | 46.9 | 8.2
| ASW | 38.6 | 45.6 | 15.8
| CHB | 30.1 | 44.9 | 25.0
| CHD | 22.9 | 54.1 | 22.9
| GIH | 24.8 | 48.5 | 26.7
| LWK | 40.9 | 43.6 | 15.5
| MEX | 12.1 | 36.2 | 51.7
| MKK | 32.7 | 48.7 | 18.6
| TSI | 21.6 | 53.9 | 24.5
| HapMapRevision=28
}}{{Venter SNP
|rsid=3777134
|allele=A
|frequency=0.383
|uid=1103654252298
|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=Arg711Gln
|aa_change_short=R711Q
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs3777134
|overall_frequency_n=5318
|overall_frequency_d=9758
|overall_frequency=0.544989
|n_genomes=41
|n_genomes_annotated=0
|n_haplomes=55
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=0
|autoscore=2
|n_web_uneval=2
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}