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Variant (rsID / SNP)

rs184153985

TTN

rs184153985 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,568,916. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TTNConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:179568916
Cytoband
2q31.2
HGVS
NM_001267550.2(TTN):c.30181A>C (p.Lys10061Gln)
Allele change
Missense_K9744Q

Associated conditions / phenotypes

Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiomyopathy

Public references

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