Variant (rsID / SNP)

rs143242500

rs143242500 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSTN. Location: chromosome 2, position 190,924,861. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MSTNBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:190924861
Cytoband: 2q32.2
HGVS: NM_005259.3(MSTN):c.674T>C (p.Ile225Thr)
Allele change: Missense_I225T

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.