Variant (rsID / SNP)

rs3212645

rs3212645 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITGA2. Location: chromosome 5, position 52,385,806. Clinical significance in the table: Benign.

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Reference-table entries

ITGA2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:52385806
Cytoband: 5q11.2
HGVS: NM_002203.4(ITGA2):c.3379A>C (p.Lys1127Gln)
Allele change: Missense_K1127Q

Associated conditions / phenotypes

Platelet-type bleeding disorder 9

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.