Variant (rsID / SNP)

rs62000429

rs62000429 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPM3. Location: chromosome 1, position 154,164,403. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TPM3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:154164403
Cytoband: 1q21.3
HGVS: NM_152263.4(TPM3):c.92A>C (p.Lys31Thr)
Allele change: Missense_K31T

Associated conditions / phenotypes

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