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_000536.4(RAG2):c.1396C>T (p.Leu466Phe)
CA380140455
650904 (ClinVar)
Gene: RAG2
Condition: recombinase activating gene 2 deficiency
Inheritance Mode: Autosomal recessive inheritance
UUID: 99d24857-5f75-4bdc-bbe7-62b4cf81be35
HGVS expressions
NM_000536.4:c.1396C>T
NM_000536.4(RAG2):c.1396C>T (p.Leu466Phe)
NC_000011.10:g.36592773G>A
CM000673.2:g.36592773G>A
NC_000011.9:g.36614323G>A
CM000673.1:g.36614323G>A
NC_000011.8:g.36570899G>A
NG_007573.1:g.10464C>T
NG_033154.1:g.3281G>A
ENST00000311485.8:c.1396C>T
ENST00000311485.7:c.1396C>T
ENST00000524423.1:n.131+5329C>T
ENST00000534663.1:c.*86-194G>A
ENST00000618712.4:c.1396C>T
NM_000536.3:c.1396C>T
NM_001243785.1:c.1396C>T
NM_001243786.1:c.1396C>T
NM_001243785.2:c.1396C>T
NM_001243786.2:c.1396C>T
Evidence submitted by expert panel
Approved on: 2024-01-23
Published on: 2024-01-23
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