Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs553313488

TTN

rs553313488 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,464,117. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

TTNConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:179464117
Cytoband
2q31.2
HGVS
NM_001267550.2(TTN):c.56403A>G (p.Gln18801=)
Allele change
Silent

Associated conditions / phenotypes

Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|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.