Variant (rsID / SNP)

rs104894904

rs104894904 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NSDHL. Clinical significance in the table: Pathogenic.

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Reference-table entries

NSDHLPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_015922.3(NSDHL):c.544G>C (p.Ala182Pro)
Allele change: Missense_A182P

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.