Variant (rsID / SNP)

rs140241271

rs140241271 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH9. Location: chromosome 22, position 36,722,634. 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: 22:36722634
Cytoband: 22q12.3
HGVS: NM_002473.6(MYH9):c.591G>A (p.Ser197=)
Allele change: Synonymous_S197S

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.