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Variant (rsID / SNP)

rs185789611

TTN

rs185789611 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,641,717. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TTNUncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
2:179641717
Cytoband
2q31.2
HGVS
NM_001267550.2(TTN):c.4874C>G (p.Ser1625Cys)
Allele change
Missense_S1625C

Associated conditions / phenotypes

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