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_000206.3:c.455-2A>T
CA413496512
Gene: IL2RG
Condition: T-B+ severe combined immunodeficiency due to gamma chain deficiency
Inheritance Mode: X-linked inheritance
UUID: 457a9920-0c47-4f99-9eb0-01fb0f114254
HGVS expressions
NM_000206.3:c.455-2A>T
NC_000023.11:g.71110297T>A
CM000685.2:g.71110297T>A
NC_000023.10:g.70330147T>A
CM000685.1:g.70330147T>A
NC_000023.9:g.70246872T>A
NG_009088.1:g.6257A>T
NG_021141.1:g.1492A>T
ENST00000482750.6:c.455-2A>T
ENST00000696903.1:n.506-2A>T
ENST00000374202.7:c.455-2A>T
ENST00000642473.1:n.819-2A>T
ENST00000644022.1:n.860+207A>T
ENST00000644708.1:n.861-2A>T
ENST00000644911.1:n.861-2A>T
ENST00000645266.1:c.455-2A>T
ENST00000645518.1:c.455-2A>T
ENST00000646106.1:c.455-2A>T
ENST00000646505.1:c.455-2A>T
ENST00000647492.1:c.455-2A>T
ENST00000276110.6:n.1046A>T
ENST00000374188.7:c.-262-2A>T
ENST00000374202.6:c.455-2A>T
ENST00000456850.6:c.25-907A>T
ENST00000464642.5:c.323-2A>T
ENST00000487883.1:c.419-2A>T
ENST00000512747.3:n.521+207A>T
NM_000206.2:c.455-2A>T
Evidence submitted by expert panel
Approved on: 2024-03-08
Published on: 2024-03-08
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