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_000448.3(RAG1):c.1331C>T (p.Ala444Val)
CA219800
68681 (ClinVar)
Gene: RAG1
Condition: recombinase activating gene 1 deficiency
Inheritance Mode: Autosomal recessive inheritance
UUID: 4c48f76d-1958-49ce-9365-ac8fe43b0175
Approved on: 2024-01-17
Published on: 2024-01-17
HGVS expressions
NM_000448.3:c.1331C>T
NM_000448.3(RAG1):c.1331C>T (p.Ala444Val)
NC_000011.10:g.36574635C>T
CM000673.2:g.36574635C>T
NC_000011.9:g.36596185C>T
CM000673.1:g.36596185C>T
NC_000011.8:g.36552761C>T
NG_007528.1:g.11623C>T
ENST00000299440.6:c.1331C>T
ENST00000299440.5:c.1331C>T
ENST00000534663.1:c.1331C>T
NM_000448.2:c.1331C>T
NM_001377277.1:c.1331C>T
NM_001377278.1:c.1331C>T
NM_001377279.1:c.1331C>T
NM_001377280.1:c.1331C>T
Evidence submitted by expert panel
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