Variant (rsID / SNP)

rs139318123

rs139318123 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT13. Location: chromosome 17, position 39,658,953. Clinical significance in the table: Benign.

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Reference-table entries

KRT13Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:39658953
Cytoband: 17q21.2
HGVS: NM_153490.3(KRT13):c.1009T>C (p.Ser337Pro)
Allele change: Missense_S337P

Associated conditions / phenotypes

White sponge nevus 2

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.