Variant (rsID / SNP)

rs201455315

rs201455315 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH9. Location: chromosome 22, position 36,678,706. 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: 22:36678706
Cytoband: 22q12.3
HGVS: NM_002473.6(MYH9):c.*8C>T
Allele change: Silent

Associated conditions / phenotypes

MYH9-related disorder|Autosomal dominant nonsyndromic hearing loss 17

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.