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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Variant: NM_000419.5(ITGA2B):c.1346G>A (p.Gly449Asp)
CA399803552
691627 (ClinVar)
Gene: ITGA2B
Condition: Glanzmann thrombasthenia
Inheritance Mode: Autosomal recessive inheritance
UUID: 1d8ef499-3ee3-4757-97d7-620a09c5b1c4
HGVS expressions
NM_000419.5:c.1346G>A
NM_000419.5(ITGA2B):c.1346G>A (p.Gly449Asp)
NC_000017.11:g.44380926C>T
CM000679.2:g.44380926C>T
NC_000017.10:g.42458294C>T
CM000679.1:g.42458294C>T
NC_000017.9:g.39813820C>T
NG_008331.1:g.13580G>A
ENST00000262407.6:c.1346G>A
ENST00000648408.1:c.777G>A
ENST00000262407.5:c.1346G>A
ENST00000592226.5:n.586G>A
ENST00000592462.5:n.141G>A
NM_000419.3:c.1346G>A
NM_000419.4:c.1346G>A
Evidence submitted by expert panel
Approved on: 2023-09-07
Published on: 2023-09-21
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