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_004333.6(BRAF):c.1433-19A>G
- Curation Version - 2.1
- Curation History
- JSON LD for Version 2.1
CA232434
136532 (ClinVar)
Gene: BRAF
Condition: RASopathy
Inheritance Mode: Autosomal dominant inheritance
UUID: 32508ced-9033-4f01-b4c7-f8b4db5a4307
Approved on: 2024-09-17
Published on: 2024-10-01
HGVS expressions
NM_004333.6:c.1433-19A>G
NM_004333.6(BRAF):c.1433-19A>G
NC_000007.14:g.140778094T>C
CM000669.2:g.140778094T>C
NC_000007.13:g.140477894T>C
CM000669.1:g.140477894T>C
NC_000007.12:g.140124363T>C
NG_007873.3:g.151671A>G
ENST00000646891.2:c.1433-19A>G
ENST00000288602.11:c.1553-19A>G
ENST00000479537.6:c.103-19A>G
ENST00000496384.7:c.1433-19A>G
ENST00000497784.2:c.*883-19A>G
ENST00000642228.1:c.*511-19A>G
ENST00000642875.1:n.997-19A>G
ENST00000644120.1:n.1823-19A>G
ENST00000644650.1:c.529-19A>G
ENST00000644905.1:n.1522-19A>G
ENST00000644969.2:c.1553-19A>G
ENST00000646730.1:c.1433-19A>G
ENST00000646891.1:c.1433-19A>G
ENST00000647434.1:c.476-19A>G
ENST00000288602.10:c.1433-19A>G
ENST00000496384.6:c.256-19A>G
ENST00000497784.1:c.1468-19A>G
NM_004333.4:c.1433-19A>G
NM_001354609.1:c.1433-19A>G
NM_004333.5:c.1433-19A>G
NR_148928.1:n.1738-19A>G
NM_001354609.2:c.1433-19A>G
NM_001374244.1:c.1553-19A>G
NM_001374258.1:c.1553-19A>G
NM_001378467.1:c.1442-19A>G
NM_001378468.1:c.1433-19A>G
NM_001378469.1:c.1367-19A>G
NM_001378470.1:c.1331-19A>G
NM_001378471.1:c.1322-19A>G
NM_001378472.1:c.1277-19A>G
NM_001378473.1:c.1277-19A>G
NM_001378474.1:c.1433-19A>G
NM_001378475.1:c.1169-19A>G
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Evidence submitted by expert panel
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