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Overview
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Classification type
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Germline
(2)
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(0)
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(2)
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Clear
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(2)
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Search results
Items: 2
Variation
Gene
(Protein Change)
Type
(Consequence)
Condition
Classification, Review status
Select item 627020
NM_000419.5(
ITGA2B
):c.1772A>C (p.Asp591Ala)
ITGA2B
(D591A)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
G
Pathogenic
FDA Recognized database
Select item 977128
NM_000419.5(
ITGA2B
):c.1752+2T>C
ITGA2B
Single nucleotide variant
(splice donor variant)
Glanzmann thrombasthenia
G
Pathogenic
FDA Recognized database
Click to view in NCBI Gene