Variant (rsID / SNP)

rs72648913

rs72648913 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,610,967. Clinical significance in the table: Likely benign.

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Reference-table entries

TTNLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:179610967
Cytoband: 2q31.2
HGVS: NM_133379.5(TTN):c.16160G>A (p.Cys5387Tyr)
Allele change: Silent

Associated conditions / phenotypes

Hypertrophic 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.