Variant (rsID / SNP)
rs121912463
rs121912463 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITGB4. Location: chromosome 17, position 73,732,158. Clinical significance in the table: Pathogenic.
Reference-table entries
ITGB4Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:73732158
- Cytoband
- 17q25.1
- HGVS
- NM_000213.5(ITGB4):c.1684T>C (p.Cys562Arg)
- Allele change
- Missense_C562R
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.