Variant (rsID / SNP)

rs794729323

rs794729323 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,473,427. Clinical significance in the table: Pathogenic.

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Reference-table entries

TTNPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Duplication
Chromosome / position: 2:179473427
Cytoband: 2q31.2
HGVS: NM_001267550.2(TTN):c.52307_52310dup (p.Glu17437delinsAspTer)

Associated conditions / phenotypes

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

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.