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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- See Evidence submitted by expert panel for details.
Variant: NM_005249.4(FOXG1):c.209_232del24 (p.Gln70_Pro77del)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA238814
193308 (ClinVar)
Gene: FOXG1
Condition: FOXG1 disorder
Inheritance Mode: Autosomal dominant inheritance
UUID: d7961e6f-d2ed-4061-a226-266375fc1e71
Approved on: 2021-03-26
Published on: 2021-05-17
HGVS expressions
NM_005249.4:c.209_232del24
NM_005249.4:c.209_232delAGCAGCAGCAGCCGCCGCCGCCGC
NM_005249.4(FOXG1):c.209_232del24 (p.Gln70_Pro77del)
ENST00000313071.7:c.209_232del
ENST00000313071.6:c.209_232del
NM_005249.4:c.209_232del
NM_005249.5:c.209_232del
NC_000014.9:g.28767488_28767511del
CM000676.2:g.28767488_28767511del
NC_000014.8:g.29236694_29236717del
CM000676.1:g.29236694_29236717del
NC_000014.7:g.28306445_28306468del
NG_009367.1:g.5408_5431del
More
Evidence submitted by expert panel
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