Variant (rsID / SNP)

rs147731088

rs147731088 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MEGF10. Location: chromosome 5, position 126,774,170. Clinical significance in the table: Likely benign.

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Reference-table entries

MEGF10Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:126774170
Cytoband: 5q23.2
HGVS: NM_001256545.2(MEGF10):c.2144C>A (p.Thr715Lys)
Allele change: Missense_T715K

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.