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Variant (rsID / SNP)

rs397517550

TTN

rs397517550 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,540,634. 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
2:179540634
Cytoband
2q31.2
HGVS
NM_001267550.2(TTN):c.34453+14G>A
Allele change
Silent

Associated conditions / phenotypes

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

Public references

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