Variant (rsID / SNP)

rs137852218

rs137852218 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PORCN. Clinical significance in the table: Pathogenic.

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Reference-table entries

PORCNPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp11.23
HGVS: NM_203475.3(PORCN):c.370C>T (p.Arg124Ter)
Allele change: Nonsense_R53X

Associated conditions / phenotypes

Focal dermal hypoplasia

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.