Variant (rsID / SNP)

rs193929392

rs193929392 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HCCS. The table records no clinical significance for this variant.

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Reference-table entries

HCCSNot classified

Variant type: single nucleotide variant
Cytoband: Xp22.2
HGVS: NM_005333.5(HCCS):c.475G>A (p.Glu159Lys)
Allele change: Missense_E159K

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.