Variant (rsID / SNP)
rs2303729
rs2303729 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LTBP4. Location: chromosome 19, position 41,111,069. Clinical significance in the table: Benign.
Reference-table entries
LTBP4Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:41111069
- Cytoband
- 19q13.2
- HGVS
- NM_001042545.2(LTBP4):c.379G>A (p.Val127Ile)
- Allele change
- Missense_V157I
Associated conditions / phenotypes
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.