Variant (rsID / SNP)
rs267606776
rs267606776 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSG4. Location: chromosome 18, position 28,971,156. Clinical significance in the table: Pathogenic.
Reference-table entries
DSG4Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:28971156
- Cytoband
- 18q12.1
- HGVS
- NM_177986.5(DSG4):c.800C>G (p.Pro267Arg)
- 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.