Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs34070843

TTN

rs34070843 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,605,725. Clinical significance in the table: Benign.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

TTNBenign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
2:179605725
Cytoband
2q31.2
HGVS
NM_001267550.2(TTN):c.12235A>G (p.Ile4079Val)
Allele change
Missense_I3762V

Associated conditions / phenotypes

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

Public references

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