Variant (rsID / SNP)
rs7257948
rs7257948 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN3. Location: chromosome 19, position 8,138,054. The table records no clinical significance for this variant.
Reference-table entries
FBN3Not classified
- Variant type
- missense_variant
- Chromosome / position
- 19:8138054
- HGVS
- NM_001321431.2,c.7830G>T,p.Glu2610Asp
- Allele change
- Missense_E2610D
Associated conditions / phenotypes
Scoliosis|Idiopathic Scoliosis|Scoliosis, Isolated 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.