Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs148551876

TTN

rs148551876 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,598,160. Clinical significance in the table: Benign/Likely benign.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

TTNBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
2:179598160
Cytoband
2q31.2
HGVS
NM_001267550.2(TTN):c.15860C>T (p.Thr5287Met)
Allele change
Missense_T4970M

Associated conditions / phenotypes

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