Variant (rsID / SNP)

rs137852614

rs137852614 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITGB2. Location: chromosome 21, position 46,321,615. Clinical significance in the table: Pathogenic.

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Reference-table entries

ITGB2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 21:46321615
Cytoband: 21q22.3
HGVS: NM_000211.5(ITGB2):c.533C>T (p.Pro178Leu)
Allele change: Missense_P178L

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.