Variant (rsID / SNP)

rs138682103

rs138682103 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITGB2. Location: chromosome 21, position 46,326,847. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ITGB2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 21:46326847
Cytoband: 21q22.3
HGVS: NM_000211.5(ITGB2):c.311C>T (p.Thr104Met)
Allele change: Missense_T104M

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.