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Variant (rsID / SNP)

rs7173826

AAGAB

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.