RS116572520 TTN

Health Risk Chr 2:178727839 snv missense variant
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Associated Conditions
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy
myofibrillar
9
with early respiratory failure
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy
myofibrillar
Population Frequencies
gnomAD ALL
0%
1kG AFR
1.3%
1kG ALL
0.3%
1kG AMR
100%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in TTN
rs28933405 rs2154172276 rs267607155 rs281864927 rs267607156 rs281864928 rs267607158 rs147879266 rs138060032 rs587776772
Ask Dr. Hemsworth about this variant