Variant (rsID / SNP)

rs146313451

rs146313451 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STAC3. Location: chromosome 12, position 57,642,566. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

STAC3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:57642566
Cytoband: 12q13.3
HGVS: NM_145064.3(STAC3):c.355C>T (p.Arg119Cys)
Allele change: Missense_R119C

Associated conditions / phenotypes

Bailey-Bloch congenital 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.