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Variant (rsID / SNP)

rs147122501

MYH9

rs147122501 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH9. Location: chromosome 22, position 36,745,146. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MYH9Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
22:36745146
Cytoband
22q12.3
HGVS
NM_002473.6(MYH9):c.136C>T (p.Leu46Phe)
Allele change
Missense_L46F

Associated conditions / phenotypes

MYH9-related disorder|Autosomal dominant nonsyndromic hearing loss 17|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss|Autosomal dominant nonsyndromic hearing loss 17|Vitelliform macular dystrophy 1

Public references

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