Variant (rsID / SNP)

rs387907071

rs387907071 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MEGF10. Location: chromosome 5, position 126,776,498. Clinical significance in the table: Pathogenic.

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Reference-table entries

MEGF10Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:126776498
Cytoband: 5q23.2
HGVS: NM_001256545.2(MEGF10):c.2301C>A (p.Cys767Ter)
Allele change: Nonsense_C767X

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.