The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- There was no gene found in the curated document received from the VCI/VCEP
Variant: NM_000419.3(ITGA2B):c.1787T>C
CA115846
2900 (ClinVar)
Gene: N/A
Condition: Glanzmann thrombasthenia
Inheritance Mode: Autosomal recessive inheritance
UUID: c6b42f33-92f7-4a71-822b-932469bd66ae
HGVS expressions
NM_000419.3(ITGA2B):c.1787T>C
NC_000017.11:g.44379780A>G
CM000679.2:g.44379780A>G
NC_000017.10:g.42457148A>G
CM000679.1:g.42457148A>G
NC_000017.9:g.39812674A>G
NG_008331.1:g.14726T>C
ENST00000262407.6:c.1787T>C
ENST00000648408.1:c.1218T>C
ENST00000262407.5:c.1787T>C
ENST00000592462.5:n.582T>C
NM_000419.3:c.1787T>C
NM_000419.4:c.1787T>C
NM_000419.5:c.1787T>C
Evidence submitted by expert panel
Approved on: 2023-11-17
Published on: 2023-11-03
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