The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- No ClinVar Id was directly found from the curated document
Variant: NM_000419.5:c.1771dup
CA915940334
Gene: ITGA2B
Condition: Glanzmann thrombasthenia
Inheritance Mode: Autosomal recessive inheritance
UUID: 59b6d07d-2891-455f-864a-b6ecdc0e1550
HGVS expressions
NM_000419.5:c.1771dup
NC_000017.11:g.44379798dup
CM000679.2:g.44379798dup
NC_000017.10:g.42457166dup
CM000679.1:g.42457166dup
NC_000017.9:g.39812692dup
NG_008331.1:g.14710dup
ENST00000262407.6:c.1771dup
ENST00000648408.1:n.1202dup
ENST00000262407.5:c.1771dup
ENST00000592462.5:n.566dup
NM_000419.3:c.1771dup
NM_000419.4:c.1771dup
Evidence submitted by expert panel
Approved on: 2022-08-05
Published on: 2022-12-07
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