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Variant (rsID / SNP)

rs200901330

MYH9

rs200901330 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH9. Location: chromosome 22, position 36,691,696. 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
22:36691696
Cytoband
22q12.3
HGVS
NM_002473.6(MYH9):c.3340T>C (p.Ser1114Pro)
Allele change
Missense_S1114P

Associated conditions / phenotypes

Autosomal dominant nonsyndromic hearing loss 17|MYH9-related disorder|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.