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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- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA915942594
822187 (ClinVar)
Gene: APC
Condition: familial adenomatous polyposis 1
Inheritance Mode: Autosomal dominant inheritance
UUID: f51c0994-bf0d-42bc-b219-f1fe7018971c
Approved on: 2023-02-18
Published on: 2023-03-14
HGVS expressions
NM_000038.6:c.1105TTG[1]
NC_000005.10:g.112819140_112819142del
CM000667.2:g.112819140_112819142del
NC_000005.9:g.112154837_112154839del
CM000667.1:g.112154837_112154839del
NC_000005.8:g.112182736_112182738del
NG_008481.4:g.131620_131622del
ENST00000257430.9:c.1108_1110del
ENST00000257430.8:c.1108_1110del
ENST00000507379.5:c.1054_1056del
ENST00000508376.6:c.1108_1110del
ENST00000508624.5:c.*430_*432del
ENST00000512211.6:c.1108_1110del
NM_000038.5:c.1108_1110del
NM_001127510.2:c.1108_1110del
NM_001127511.2:c.1054_1056del
NM_001354895.1:c.1108_1110del
NM_001354896.1:c.1108_1110del
NM_001354897.1:c.1138_1140del
NM_001354898.1:c.1033_1035del
NM_001354899.1:c.1024_1026del
NM_001354900.1:c.931_933del
NM_001354901.1:c.931_933del
NM_001354902.1:c.964-129_964-127del
NM_001354903.1:c.934-129_934-127del
NM_001354904.1:c.859-129_859-127del
NM_001354905.1:c.757-129_757-127del
NM_001354906.1:c.259_261del
NM_000038.6:c.1108_1110del
NM_001127510.3:c.1108_1110del
NM_001127511.3:c.1054_1056del
NM_001354895.2:c.1108_1110del
NM_001354896.2:c.1108_1110del
NM_001354897.2:c.1138_1140del
NM_001354898.2:c.1033_1035del
NM_001354899.2:c.1024_1026del
NM_001354900.2:c.931_933del
NM_001354901.2:c.931_933del
NM_001354902.2:c.964-129_964-127del
NM_001354903.2:c.934-129_934-127del
NM_001354904.2:c.859-129_859-127del
NM_001354905.2:c.757-129_757-127del
NM_001354906.2:c.259_261del
NM_000038.6(APC):c.1105TTG[1] (p.Leu370del)
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Evidence submitted by expert panel
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