The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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- See Evidence submitted by expert panel for details.
Variant: NM_000419.4(ITGA2B):c.891+12del
CA8603299
323561 (ClinVar)
Gene: ITGA2B
Condition: Glanzmann's thrombasthenia
Inheritance Mode: Autosomal recessive inheritance
UUID: 0e228f03-f000-4155-a74d-8b93303f8ad0
Approved on: 2019-07-19
Published on: 2021-01-28
HGVS expressions
NM_000419.4:c.891+12del
NM_000419.4(ITGA2B):c.891+12del
NC_000017.11:g.44384299del
CM000679.2:g.44384299del
NC_000017.10:g.42461667del
CM000679.1:g.42461667del
NC_000017.9:g.39817193del
NG_008331.1:g.10203del
NM_000419.3:c.891+8del
NM_000419.4:c.891+8del
NM_000419.5:c.891+8del
ENST00000262407.5:c.891+8del
ENST00000589645.5:n.342+8del
ENST00000591990.5:n.436+8del
ENST00000592075.5:n.260+8del
ENST00000592226.5:n.131+8del
ENST00000592253.5:n.399+8del
Evidence submitted by expert panel
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