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_000038.6(APC):c.1240del (p.Arg414fs)
CA645509160
438864 (ClinVar)
Gene: APC
Condition: familial adenomatous polyposis 1
Inheritance Mode: Autosomal dominant inheritance
UUID: 14569ca5-59c5-46f3-9907-beb376fc4b20
Approved on: 2023-02-18
Published on: 2023-03-14
HGVS expressions
NM_000038.6:c.1240del
NM_000038.6(APC):c.1240del (p.Arg414fs)
NC_000005.10:g.112819272del
CM000667.2:g.112819272del
NC_000005.9:g.112154969del
CM000667.1:g.112154969del
NC_000005.8:g.112182868del
NG_008481.4:g.131752del
ENST00000257430.9:c.1240del
ENST00000257430.8:c.1240del
ENST00000507379.5:c.1186del
ENST00000508376.6:c.1240del
ENST00000508624.5:c.*562del
ENST00000512211.6:c.1240del
NM_000038.5:c.1240del
NM_001127510.2:c.1240del
NM_001127511.2:c.1186del
NM_001354895.1:c.1240del
NM_001354896.1:c.1240del
NM_001354897.1:c.1270del
NM_001354898.1:c.1165del
NM_001354899.1:c.1156del
NM_001354900.1:c.1063del
NM_001354901.1:c.1063del
NM_001354902.1:c.967del
NM_001354903.1:c.937del
NM_001354904.1:c.862del
NM_001354905.1:c.760del
NM_001354906.1:c.391del
NM_001127510.3:c.1240del
NM_001127511.3:c.1186del
NM_001354895.2:c.1240del
NM_001354896.2:c.1240del
NM_001354897.2:c.1270del
NM_001354898.2:c.1165del
NM_001354899.2:c.1156del
NM_001354900.2:c.1063del
NM_001354901.2:c.1063del
NM_001354902.2:c.967del
NM_001354903.2:c.937del
NM_001354904.2:c.862del
NM_001354905.2:c.760del
NM_001354906.2:c.391del
Evidence submitted by expert panel
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