The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
- No CSPEC computed assertion could be determined for this classification!
Variant: NM_002880.4(RAF1):c.768G>T (p.Arg256Ser)
CA261625
40599 (ClinVar)
Gene: RAF1
Condition: RASopathy
Inheritance Mode: Autosomal dominant inheritance
UUID: 4f1ea3bf-fe0e-4be0-bb44-c2fbf8522598
Approved on: 2024-09-17
Published on: 2024-10-01
HGVS expressions
NM_002880.4:c.768G>T
NM_002880.4(RAF1):c.768G>T (p.Arg256Ser)
NC_000003.12:g.12604202C>A
CM000665.2:g.12604202C>A
NC_000003.11:g.12645701C>A
CM000665.1:g.12645701C>A
NC_000003.10:g.12620701C>A
NG_007467.1:g.64978G>T
ENST00000416093.2:c.*445G>T
ENST00000423275.6:c.*445G>T
ENST00000432427.3:c.88G>T
ENST00000465826.6:n.359G>T
ENST00000491290.2:n.1145G>T
ENST00000684903.1:c.*445G>T
ENST00000685348.1:c.*445G>T
ENST00000685437.1:c.669G>T
ENST00000685653.1:c.768G>T
ENST00000685738.1:c.768G>T
ENST00000685959.1:c.768G>T
ENST00000686409.1:n.1368G>T
ENST00000686455.1:n.1131G>T
ENST00000686479.1:n.1139G>T
ENST00000686762.1:c.768G>T
ENST00000687257.1:n.1004G>T
ENST00000687326.1:c.768G>T
ENST00000687486.1:c.88G>T
ENST00000687505.1:n.886G>T
ENST00000687923.1:c.669G>T
ENST00000687940.1:n.1145G>T
ENST00000688269.1:n.1376G>T
ENST00000688326.1:c.88G>T
ENST00000688444.1:n.1094G>T
ENST00000688543.1:c.669G>T
ENST00000688625.1:c.*346G>T
ENST00000688803.1:n.999G>T
ENST00000689033.1:c.768G>T
ENST00000689097.1:c.*445G>T
ENST00000689389.1:c.768G>T
ENST00000689418.1:c.*445G>T
ENST00000689481.1:c.*445G>T
ENST00000689540.1:n.918G>T
ENST00000689876.1:c.768G>T
ENST00000689914.1:c.768G>T
ENST00000690397.1:c.669G>T
ENST00000690460.1:c.768G>T
ENST00000690625.1:n.1071G>T
ENST00000691268.1:c.262-3787G>T
ENST00000691396.1:c.*561G>T
ENST00000691724.1:c.768G>T
ENST00000691779.1:c.*346G>T
ENST00000691899.1:c.768G>T
ENST00000692093.1:c.669G>T
ENST00000692311.1:n.1141G>T
ENST00000692558.1:n.1133G>T
ENST00000692773.1:c.*445G>T
ENST00000692830.1:c.*513G>T
ENST00000693069.1:c.669G>T
ENST00000693312.1:c.543G>T
ENST00000693664.1:c.768G>T
ENST00000693705.1:c.*445G>T
ENST00000251849.9:c.768G>T
ENST00000442415.7:c.768G>T
ENST00000251849.8:c.768G>T
ENST00000416093.1:c.*346G>T
ENST00000423275.5:c.*445G>T
ENST00000432427.2:c.405G>T
ENST00000442415.6:c.768G>T
ENST00000465826.5:n.12G>T
ENST00000491290.1:n.289G>T
NM_002880.3:c.768G>T
NM_001354689.1:c.768G>T
NM_001354690.1:c.768G>T
NM_001354691.1:c.525G>T
NM_001354692.1:c.525G>T
NM_001354693.1:c.669G>T
NM_001354694.1:c.525G>T
NM_001354695.1:c.426G>T
NR_148940.1:n.1183G>T
NR_148941.1:n.1183G>T
NR_148942.1:n.1183G>T
NM_001354689.3:c.768G>T
NM_001354690.2:c.768G>T
NM_001354691.2:c.525G>T
NM_001354692.2:c.525G>T
NM_001354693.2:c.669G>T
NM_001354694.2:c.525G>T
NM_001354695.2:c.426G>T
NR_148940.2:n.1099G>T
NR_148941.2:n.1099G>T
NR_148942.2:n.1099G>T
NM_001354690.3:c.768G>T
NM_001354691.3:c.525G>T
NM_001354692.3:c.525G>T
NM_001354693.3:c.669G>T
NM_001354694.3:c.525G>T
NM_001354695.3:c.426G>T
NR_148940.3:n.1099G>T
NR_148941.3:n.1099G>T
NR_148942.3:n.1099G>T
Evidence submitted by expert panel
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