Variant (rsID / SNP)
rs6892205
rs6892205 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPINK5. Location: chromosome 5, position 147,475,386. Clinical significance in the table: Benign.
Reference-table entries
SPINK5Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:147475386
- Cytoband
- 5q32
- HGVS
- NM_006846.4(SPINK5):c.800A>G (p.Gln267Arg)
- Allele change
- Missense_Q267R
Associated conditions / phenotypes
Netherton syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.