Variant (rsID / SNP)
rs11549949
rs11549949 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT5. Location: chromosome 12, position 52,908,872. Clinical significance in the table: Benign.
Reference-table entries
KRT5Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:52908872
- Cytoband
- 12q13.13
- HGVS
- NM_000424.4(KRT5):c.1627G>A (p.Gly543Ser)
- Allele change
- Missense_G543S
Associated conditions / phenotypes
Epidermolysis bullosa simplex
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.