Variant (rsID / SNP)

rs1064793103

rs1064793103 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSG2. Location: chromosome 18, position 29,125,706. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

DSG2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: Deletion
Chromosome / position: 18:29125706
Cytoband: 18q12.1
HGVS: NM_001943.5(DSG2):c.2358del (p.Asp787fs)

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.