Variant (rsID / SNP)

rs139664153

rs139664153 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO6. Location: chromosome 6, position 76,623,870. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MYO6Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 6:76623870
Cytoband: 6q14.1
HGVS: NM_004999.4(MYO6):c.3530G>A (p.Arg1177His)
Allele change: Missense_R1154H

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.