Variant (rsID / SNP)

rs387906896

rs387906896 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NCSTN. Location: chromosome 1, position 160,319,373. Clinical significance in the table: Pathogenic.

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Reference-table entries

NCSTNPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:160319373
Cytoband: 1q23.2
HGVS: NM_015331.3(NCSTN):c.349C>T (p.Arg117Ter)
Allele change: Nonsense_R117X

Associated conditions / phenotypes

Acne inversa, familial, 1

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.