Variant (rsID / SNP)

rs78069165

rs78069165 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MEGF10. Location: chromosome 5, position 126,732,263. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MEGF10Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:126732263
Cytoband: 5q23.2
HGVS: NM_001256545.2(MEGF10):c.452G>A (p.Arg151Gln)
Allele change: Missense_R151Q

Associated conditions / phenotypes

MEGF10-Related Myopathy

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.