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.
CA000484
93323 (ClinVar)
Gene: TP53 (HGNC:7157)
Condition: Li-Fraumeni syndrome
(MONDO:0018875)
Inheritance Mode: Autosomal dominant inheritance
UUID: 42caf4f2-7ef5-45d4-a593-271e92b9ca88
Approved on: 2019-08-28
Published on: 2020-01-24
HGVS expressions
NM_000546.5:c.892G>T
NM_000546.5(TP53):c.892G>T (p.Glu298Ter)
NC_000017.11:g.7673728C>A
CM000679.2:g.7673728C>A
NC_000017.10:g.7577046C>A
CM000679.1:g.7577046C>A
NC_000017.9:g.7517771C>A
NG_017013.2:g.18823G>T
ENST00000503591.2:c.892G>T
ENST00000508793.6:c.892G>T
ENST00000509690.6:c.496G>T
ENST00000514944.6:c.613G>T
ENST00000604348.6:c.871G>T
ENST00000269305.9:c.892G>T
ENST00000269305.8:c.892G>T
ENST00000359597.8:c.892G>T
ENST00000413465.6:c.782+453G>T
ENST00000420246.6:c.892G>T
ENST00000445888.6:c.892G>T
ENST00000455263.6:c.892G>T
ENST00000504290.5:c.496G>T
ENST00000504937.5:c.496G>T
ENST00000509690.5:c.496G>T
ENST00000510385.5:c.496G>T
ENST00000610292.4:c.775G>T
ENST00000610538.4:c.775G>T
ENST00000610623.4:c.415G>T
ENST00000615910.4:c.859G>T
ENST00000617185.4:c.892G>T
ENST00000618944.4:c.415G>T
ENST00000619186.4:c.415G>T
ENST00000619485.4:c.775G>T
ENST00000620739.4:c.775G>T
ENST00000622645.4:c.775G>T
ENST00000635293.1:c.775G>T
NM_001126112.2:c.892G>T
NM_001126113.2:c.892G>T
NM_001126114.2:c.892G>T
NM_001126115.1:c.496G>T
NM_001126116.1:c.496G>T
NM_001126117.1:c.496G>T
NM_001126118.1:c.775G>T
NM_001276695.1:c.775G>T
NM_001276696.1:c.775G>T
NM_001276697.1:c.415G>T
NM_001276698.1:c.415G>T
NM_001276699.1:c.415G>T
NM_001276760.1:c.775G>T
NM_001276761.1:c.775G>T
NM_001276695.2:c.775G>T
NM_001276696.2:c.775G>T
NM_001276697.2:c.415G>T
NM_001276698.2:c.415G>T
NM_001276699.2:c.415G>T
NM_001276760.2:c.775G>T
NM_001276761.2:c.775G>T
NM_000546.6:c.892G>T
NM_001126112.3:c.892G>T
NM_001126113.3:c.892G>T
NM_001126114.3:c.892G>T
NM_001126115.2:c.496G>T
NM_001126116.2:c.496G>T
NM_001126117.2:c.496G>T
NM_001126118.2:c.775G>T
NM_001276695.3:c.775G>T
NM_001276696.3:c.775G>T
NM_001276697.3:c.415G>T
NM_001276698.3:c.415G>T
NM_001276699.3:c.415G>T
NM_001276760.3:c.775G>T
NM_001276761.3:c.775G>T
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Evidence submitted by expert panel
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