Variant (rsID / SNP)

rs139486133

rs139486133 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,613,049. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TTNConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 2:179613049
Cytoband: 2q31.2
HGVS: NM_133379.5(TTN):c.14078T>C (p.Ile4693Thr)
Allele change: Silent

Associated conditions / phenotypes

Toe walking

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.