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Variant (rsID / SNP)

rs72955213

TTN

rs72955213 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,621,503. 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
2:179621503
Cytoband
2q31.2
HGVS
NM_001267550.2(TTN):c.10700G>A (p.Ser3567Asn)
Allele change
Silent

Associated conditions / phenotypes

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

Public references

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