Variant (rsID / SNP)

rs78128189

rs78128189 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPINK5. Location: chromosome 5, position 147,480,052. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SPINK5Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:147480052
Cytoband: 5q32
HGVS: NM_006846.4(SPINK5):c.1128C>T (p.Asn376=)
Allele change: Synonymous_N376N

Associated conditions / phenotypes

Netherton syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.