Variant (rsID / SNP)

rs5030672

rs5030672 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITGB2. Location: chromosome 21, position 46,309,312. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ITGB2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 21:46309312
Cytoband: 21q22.3
HGVS: NM_000211.5(ITGB2):c.1756C>T (p.Arg586Trp)
Allele change: Missense_R586W

Associated conditions / phenotypes

Leukocyte adhesion deficiency 1

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.