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Variant (rsID / SNP)

rs2562829

TTN

rs2562829 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,604,366. Clinical significance in the table: Benign.

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Reference-table entries

TTNBenign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
2:179604366
Cytoband
2q31.2
HGVS
NM_001267550.2(TTN):c.13594A>C (p.Thr4532Pro)
Allele change
Missense_T4215P

Associated conditions / phenotypes

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

Public references

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