Variant (rsID / SNP)
rs7585334
rs7585334 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,620,951. Clinical significance in the table: Benign.
Reference-table entries
TTNBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:179620951
- Cytoband
- 2q31.2
- HGVS
- NM_001267550.2(TTN):c.11252G>A (p.Gly3751Asp)
- Allele change
- Silent
Associated conditions / phenotypes
Dilated cardiomyopathy 1G|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.
