Variant (rsID / SNP)

rs794729346

rs794729346 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,432,001. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TTNPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Microsatellite
Chromosome / position: 2:179432001
Cytoband: 2q31.2
HGVS: NM_001267550.2(TTN):c.78855_78858del (p.Arg26286fs)

Associated conditions / phenotypes

Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G

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.