Variant (rsID / SNP)

rs876661393

rs876661393 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNC1. Location: chromosome 3, position 52,486,163. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

TNNC1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:52486163
Cytoband: 3p21.1
HGVS: NM_003280.3(TNNC1):c.161C>A (p.Pro54His)
Allele change: Missense_P54H

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.