Variant (rsID / SNP)

rs35378785

rs35378785 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSG4. Location: chromosome 18, position 28,979,427. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DSG4Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 18:28979427
Cytoband: 18q12.1
HGVS: NM_177986.5(DSG4):c.1198G>A (p.Gly400Arg)
Allele change: Silent

Associated conditions / phenotypes

Hypotrichosis 6

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.