Variant (rsID / SNP)

rs199907508

rs199907508 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMPX. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SMPXConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xp22.12
HGVS: NM_014332.3(SMPX):c.132G>A (p.Glu44=)
Allele change: Silent

Associated conditions / phenotypes

Hearing loss, X-linked 4

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.