Variant (rsID / SNP)
rs72648930
rs72648930 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,598,553. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:179598553
- Cytoband
- 2q31.2
- HGVS
- NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro)
- Allele change
- Missense_Q4871P
Associated conditions / phenotypes
Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Tibial muscular dystrophy|Early-onset myopathy with fatal cardiomyopathy|Cardiomyopathy|Toe walking
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.