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Variant (rsID / SNP)

rs1815739

ACTN3

rs1815739 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTN3. Location: chromosome 11, position 66,328,095. Clinical significance in the table: Conflicting interpretations of pathogenicity; Affects.

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Reference-table entries

ACTN3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity; Affects
Variant type
single nucleotide variant
Chromosome / position
11:66328095
Cytoband
11q13.2
HGVS
NM_001104.4(ACTN3):c.1729C>T (p.Arg577Ter)
Allele change
Missense_X620R

Associated conditions / phenotypes

ACTININ, ALPHA-3 POLYMORPHISM|Actn3 deficiency|Sprinting performance

Public references

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