Variant (rsID / SNP)

rs189411232

rs189411232 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO6. Location: chromosome 6, position 76,618,299. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MYO6Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 6:76618299
Cytoband: 6q14.1
HGVS: NM_004999.4(MYO6):c.3367A>G (p.Asn1123Asp)
Allele change: Missense_N1100D

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.