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_002185.5(IL7R):c.379G>A (p.Val127Ile)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA359428682
1339483 (ClinVar)
Gene: IL7R
Condition: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
Inheritance Mode: Autosomal recessive inheritance
UUID: 577ca02a-d27e-42e8-86e0-4f997bb220da
Approved on: 2024-02-01
Published on: 2024-02-01
HGVS expressions
NM_002185.5:c.379G>A
NM_002185.5(IL7R):c.379G>A (p.Val127Ile)
NC_000005.10:g.35867463G>A
CM000667.2:g.35867463G>A
NC_000005.9:g.35867565G>A
CM000667.1:g.35867565G>A
NC_000005.8:g.35903322G>A
NG_009567.1:g.15575G>A
ENST00000303115.8:c.379G>A
ENST00000303115.7:c.379G>A
ENST00000506850.5:c.379G>A
ENST00000511031.1:n.513G>A
ENST00000511982.1:c.379G>A
ENST00000514217.5:c.379G>A
NM_002185.3:c.379G>A
NR_120485.1:n.482G>A
NM_002185.4:c.379G>A
NR_120485.2:n.508G>A
NR_120485.3:n.466G>A
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Evidence submitted by expert panel
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