Variant (rsID / SNP)
rs871443
rs871443 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GALK1, ITGB4. Location: chromosome 17, position 73,753,503. Clinical significance in the table: Benign.
Reference-table entries
GALK1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:73753503
- Cytoband
- 17q25.1
- HGVS
- NM_000213.5(ITGB4):c.5336T>C (p.Leu1779Pro)
- Allele change
- Missense_L1709P
Associated conditions / phenotypes
Junctional epidermolysis bullosa with pyloric atresia|Deficiency of galactokinase|Epidermolysis bullosa simplex 1C, localized|Junctional epidermolysis bullosa, non-Herlitz type
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.