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_002880.3(RAF1):c.1914G>A (p.Thr638=)
CA134715
40628 (ClinVar)
Gene: RAF1
Condition: RASopathy
Inheritance Mode: Autosomal dominant inheritance
UUID: 5dd1c397-b2a2-4954-bbbb-583d4a4576dc
HGVS expressions
NM_002880.3:c.1914G>A
NM_002880.3(RAF1):c.1914G>A (p.Thr638=)
NM_001354689.1:c.1974G>A
NM_001354690.1:c.1914G>A
NM_001354691.1:c.1671G>A
NM_001354692.1:c.1671G>A
NM_001354693.1:c.1815G>A
NM_001354694.1:c.1731G>A
NM_001354695.1:c.1572G>A
NR_148940.1:n.2442G>A
NR_148941.1:n.2388G>A
NR_148942.1:n.2327G>A
ENST00000251849.8:c.1914G>A
ENST00000423275.5:c.*1591G>A
ENST00000432427.2:n.1551G>A
ENST00000442415.6:c.1974G>A
ENST00000471449.1:n.603G>A
NC_000003.12:g.12584547C>T
CM000665.2:g.12584547C>T
NC_000003.11:g.12626046C>T
CM000665.1:g.12626046C>T
NC_000003.10:g.12601046C>T
NG_007467.1:g.84633G>A
Evidence submitted by expert panel
Approved on: 2017-04-18
Published on: 2018-12-10
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