Variant (rsID / SNP)
rs117041267
rs117041267 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT2. Location: chromosome 12, position 53,038,588. Clinical significance in the table: Benign.
Reference-table entries
KRT2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:53038588
- Cytoband
- 12q13.13
- HGVS
- NM_000423.3(KRT2):c.*215C>T
- Allele change
- Silent
Associated conditions / phenotypes
Ichthyosis bullosa of Siemens
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.