Variant (rsID / SNP)
rs267606775
rs267606775 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSG4. Location: chromosome 18, position 28,970,675. Clinical significance in the table: Pathogenic.
Reference-table entries
DSG4Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:28970675
- Cytoband
- 18q12.1
- HGVS
- NM_177986.5(DSG4):c.574T>C (p.Ser192Pro)
- Allele change
- Silent
Associated conditions / phenotypes
Hypotrichosis 6
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.