Variant (rsID / SNP)
rs377002313
rs377002313 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN2. Location: chromosome 5, position 127,668,735. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
FBN2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:127668735
- Cytoband
- 5q23.3
- HGVS
- NM_001999.4(FBN2):c.4100-9G>T
- Allele change
- Silent
Associated conditions / phenotypes
Congenital contractural arachnodactyly
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.