Variant (rsID / SNP)
rs72648929
rs72648929 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,599,473. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
TTNBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:179599473
- Cytoband
- 2q31.2
- HGVS
- NM_001267550.2(TTN):c.15178G>A (p.Val5060Ile)
- Allele change
- Missense_V4743L
Associated conditions / phenotypes
Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Tibial muscular dystrophy|Cardiomyopathy|Long QT syndrome|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.