Variant (rsID / SNP)

rs11170164

rs11170164 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT5. Location: chromosome 12, position 52,913,668. Clinical significance in the table: Benign.

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Reference-table entries

KRT5Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:52913668
Cytoband: 12q13.13
HGVS: NM_000424.4(KRT5):c.413G>A (p.Gly138Glu)
Allele change: Missense_G138E

Associated conditions / phenotypes

Epidermolysis bullosa simplex

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.