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_000546.5(TP53):c.743G>A (p.Arg248Gln)
CA000387
12356 (ClinVar)
Gene: TP53
Condition: Li-Fraumeni syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: cf887752-8539-4177-a74d-dc5c8f8a36ed
HGVS expressions
NM_000546.5:c.743G>A
NM_000546.5(TP53):c.743G>A (p.Arg248Gln)
NC_000017.11:g.7674220C>T
CM000679.2:g.7674220C>T
NC_000017.10:g.7577538C>T
CM000679.1:g.7577538C>T
NC_000017.9:g.7518263C>T
NG_017013.2:g.18331G>A
NM_001126112.2:c.743G>A
NM_001126113.2:c.743G>A
NM_001126114.2:c.743G>A
NM_001126115.1:c.347G>A
NM_001126116.1:c.347G>A
NM_001126117.1:c.347G>A
NM_001126118.1:c.626G>A
NM_001276695.1:c.626G>A
NM_001276696.1:c.626G>A
NM_001276697.1:c.266G>A
NM_001276698.1:c.266G>A
NM_001276699.1:c.266G>A
NM_001276760.1:c.626G>A
NM_001276761.1:c.626G>A
ENST00000269305.8:c.743G>A
ENST00000359597.8:n.743G>A
ENST00000413465.6:n.743G>A
ENST00000420246.6:c.743G>A
ENST00000445888.6:c.743G>A
ENST00000455263.6:c.743G>A
ENST00000504290.5:c.347G>A
ENST00000504937.5:c.347G>A
ENST00000509690.5:c.347G>A
ENST00000510385.5:c.347G>A
ENST00000514944.5:c.464G>A
ENST00000610292.4:c.626G>A
ENST00000610538.4:c.626G>A
ENST00000610623.4:c.266G>A
ENST00000615910.4:n.710G>A
ENST00000617185.4:c.743G>A
ENST00000618944.4:c.266G>A
ENST00000619186.4:c.266G>A
ENST00000619485.4:c.626G>A
ENST00000620739.4:c.626G>A
ENST00000622645.4:c.626G>A
ENST00000635293.1:c.626G>A
Evidence submitted by expert panel
Approved on: 2019-08-28
Published on: 2020-01-24
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