The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- There was no gene found in the curated document received from the VCI/VCEP
- No CSPEC computed assertion could be determined for this classification!
Variant: NM_001482.3(GATM):c.407C>T (p.Thr136Met)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA314868
205613 (ClinVar)
Gene: N/A
Condition: AGAT deficiency
Inheritance Mode: Autosomal recessive inheritance
UUID: 8ecdc806-d5b5-4a80-98a9-ce7424f5b9aa
Approved on: 2023-01-25
Published on: 2023-01-25
HGVS expressions
NM_001482.3(GATM):c.407C>T (p.Thr136Met)
NC_000015.10:g.45369403G>A
CM000677.2:g.45369403G>A
NC_000015.9:g.45661601G>A
CM000677.1:g.45661601G>A
NC_000015.8:g.43448893G>A
NG_011674.1:g.14380C>T
NG_011674.2:g.37915C>T
ENST00000396659.8:c.407C>T
ENST00000674905.1:c.407C>T
ENST00000675158.1:c.407C>T
ENST00000675323.1:c.407C>T
ENST00000675701.1:c.347C>T
ENST00000675974.1:n.498C>T
ENST00000676090.1:c.*1138C>T
ENST00000396659.7:c.407C>T
ENST00000558118.1:c.*212C>T
ENST00000558163.1:c.188C>T
ENST00000558336.5:c.407C>T
ENST00000558362.5:n.2063C>T
ENST00000558537.5:c.20C>T
ENST00000558916.1:n.305C>T
ENST00000559885.1:c.20C>T
ENST00000561148.5:c.20C>T
NM_001482.2:c.407C>T
NM_001321015.1:c.20C>T
NM_001482.3:c.407C>T
NM_001321015.2:c.20C>T
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Evidence submitted by expert panel
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