Variant (rsID / SNP)

rs121917889

rs121917889 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HCCS. Clinical significance in the table: Pathogenic.

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Reference-table entries

HCCSPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp22.2
HGVS: NM_005333.5(HCCS):c.649C>T (p.Arg217Cys)
Allele change: Missense_R217C

Associated conditions / phenotypes

Linear skin defects with multiple congenital anomalies 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.