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Variant (rsID / SNP)

rs72648979

TTN

rs72648979 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,583,254. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TTNBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
2:179583254
Cytoband
2q31.2
HGVS
NM_001267550.2(TTN):c.24579A>G (p.Thr8193_Tyr8194=)
Allele change
Synonymous_T7876T

Associated conditions / phenotypes

Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Myopathy, myofibrillar, 9, with early respiratory failure

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.