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Variant (rsID / SNP)

rs189286381

TTN

rs189286381 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,569,261. 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
2:179569261
Cytoband
2q31.2
HGVS
NM_001267550.2(TTN):c.29938G>A (p.Ala9980Thr)
Allele change
Missense_A9663T

Associated conditions / phenotypes

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.