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Variant (rsID / SNP)

rs77314619

SPEG

rs77314619 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPEG. Location: chromosome 2, position 220,352,984. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SPEGConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:220352984
Cytoband
2q35
HGVS
NM_005876.5(SPEG):c.7810C>T (p.Leu2604Phe)
Allele change
Missense_L2604F

Associated conditions / phenotypes

Myopathy, centronuclear, 5

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.