Variant (rsID / SNP)

rs200616409

rs200616409 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH9. Location: chromosome 22, position 36,688,226. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MYH9Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 22:36688226
Cytoband: 22q12.3
HGVS: NM_002473.6(MYH9):c.4150G>C (p.Glu1384Gln)
Allele change: Missense_E1384Q

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.