Variant (rsID / SNP)

rs137853863

rs137853863 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NSDHL. The table records no clinical significance for this variant.

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Reference-table entries

NSDHLNot classified

Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_015922.3(NSDHL):c.1046A>G (p.Tyr349Cys)
Allele change: Missense_Y349C

Associated conditions / phenotypes

Child syndrome

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.