Variant (rsID / SNP)

rs188245182

rs188245182 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT4. Location: chromosome 12, position 53,205,749. Clinical significance in the table: Benign.

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Reference-table entries

KRT4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:53205749
Cytoband: 12q13.13
HGVS: NM_002272.4(KRT4):c.475G>A (p.Glu159Lys)
Allele change: Missense_E159K

Associated conditions / phenotypes

White sponge nevus 1

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.