Variant (rsID / SNP)
rs7173826
rs7173826 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AAGAB. Location: chromosome 15, position 67,528,374. Clinical significance in the table: Benign.
Reference-table entries
AAGABBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- missense_variant
- Chromosome / position
- 15:67528374
- HGVS
- NM_024666.5,c.394A>C,p.Ile132Leu
- Allele change
- Missense_I132L
Associated conditions / phenotypes
Palmoplantar Keratoderma, Punctate Type Ia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
