Variant (rsID / SNP)

rs782143078

rs782143078 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NSDHL. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NSDHLConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_015922.3(NSDHL):c.842G>A (p.Arg281His)
Allele change: Missense_R281H

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.