Variant (rsID / SNP)

rs876657520

rs876657520 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH9. Location: chromosome 22, position 36,691,047. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MYH9Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 22:36691047
Cytoband: 22q12.3
HGVS: NM_002473.6(MYH9):c.3561C>A (p.Ile1187=)
Allele change: Synonymous_I1187I

Associated conditions / phenotypes

Autosomal dominant nonsyndromic hearing loss 17|MYH9-related disorder

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.