Variant (rsID / SNP)

rs35493945

rs35493945 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSTN. Location: chromosome 2, position 190,925,069. Clinical significance in the table: Likely benign.

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Reference-table entries

MSTNLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:190925069
Cytoband: 2q32.2
HGVS: NM_005259.3(MSTN):c.466C>A (p.Leu156Ile)
Allele change: Missense_L156I

Associated conditions / phenotypes

Myostatin-related muscle hypertrophy

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.