Variant (rsID / SNP)

rs372969054

rs372969054 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NHS. Clinical significance in the table: Uncertain significance.

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Reference-table entries

NHSUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Cytoband: Xp22.13
HGVS: NM_001291867.2(NHS):c.1175G>A (p.Arg392Gln)
Allele change: Missense_R371Q

Associated conditions / phenotypes

Inborn genetic diseases

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.