Variant (rsID / SNP)

rs142859678

rs142859678 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SERPINB7. Location: chromosome 18, position 61,471,522. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SERPINB7Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 18:61471522
Cytoband: 18q21.33
HGVS: NM_003784.4(SERPINB7):c.796C>T (p.Arg266Ter)
Allele change: Nonsense_R266X

Associated conditions / phenotypes

Palmoplantar keratoderma, Nagashima type

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.