Variant (rsID / SNP)

rs1426310

rs1426310 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSG1. Location: chromosome 18, position 28,898,294. Clinical significance in the table: Benign.

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Reference-table entries

DSG1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 18:28898294
Cytoband: 18q12.1
HGVS: NM_001942.4(DSG1):c.31A>G (p.Met11Val)
Allele change: Missense_M11V

Associated conditions / phenotypes

Palmoplantar keratoderma i, striate, focal, or diffuse|Severe dermatitis-multiple allergies-metabolic wasting syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.