Variant (rsID / SNP)

rs869320740

rs869320740 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,410,829. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TTNPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:179410829
Cytoband: 2q31.2
HGVS: NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg)
Allele change: Silent

Associated conditions / phenotypes

Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiomyopathy|Hypertrophic cardiomyopathy 9

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.