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_005249.5(FOXG1):c.275C>T (p.Ala92Val)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA16603285
377165 (ClinVar)
Gene: FOXG1
Condition: FOXG1 disorder
Inheritance Mode: Autosomal dominant inheritance
UUID: 9c82a969-2a93-4390-a767-b97c00b04e15
Approved on: 2023-10-13
Published on: 2023-12-08
HGVS expressions
NM_005249.5:c.275C>T
NM_005249.5(FOXG1):c.275C>T (p.Ala92Val)
NC_000014.9:g.28767554C>T
CM000676.2:g.28767554C>T
NC_000014.8:g.29236760C>T
CM000676.1:g.29236760C>T
NC_000014.7:g.28306511C>T
NG_009367.1:g.5474C>T
ENST00000313071.7:c.275C>T
ENST00000313071.6:c.275C>T
NM_005249.4:c.275C>T
More
Evidence submitted by expert panel
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