Variant (rsID / SNP)
rs143203816
rs143203816 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITGB4. Location: chromosome 17, position 73,733,712. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
ITGB4Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:73733712
- Cytoband
- 17q25.1
- HGVS
- NM_000213.5(ITGB4):c.2207G>T (p.Cys736Phe)
- Allele change
- Missense_C736F
Associated conditions / phenotypes
Junctional epidermolysis bullosa with pyloric atresia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.