Variant (rsID / SNP)

rs868494032

rs868494032 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,424,422. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TTNPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:179424422
Cytoband: 2q31.2
HGVS: NM_001267550.2(TTN):c.86437G>T (p.Glu28813Ter)
Allele change: Silent

Associated conditions / phenotypes

Primary dilated cardiomyopathy

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.