Variant (rsID / SNP)

rs104894129

rs104894129 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPM2. Location: chromosome 9, position 35,685,669. Clinical significance in the table: Pathogenic.

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Reference-table entries

TPM2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:35685669
Cytoband: 9p13.3
HGVS: NM_003289.4(TPM2):c.349G>A (p.Glu117Lys)
Allele change: Missense_E117K

Associated conditions / phenotypes

Nemaline myopathy 4|Arthrogryposis, distal, type 1A

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.