Variant (rsID / SNP)

rs121964854

rs121964854 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPM3. Location: chromosome 1, position 154,145,448. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TPM3Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:154145448
Cytoband: 1q21.3
HGVS: NM_152263.4(TPM3):c.502C>G (p.Arg168Gly)
Allele change: Silent

Associated conditions / phenotypes

Congenital myopathy with fiber type disproportion|Nemaline myopathy 1|Nemaline myopathy 1|Congenital myopathy with fiber type disproportion

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.