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_004333.6(BRAF):c.*7T>C
CA175333
162794 (ClinVar)
Gene: BRAF
Condition: RASopathy
Inheritance Mode: Autosomal dominant inheritance
UUID: 2ef3ac75-0c28-418a-bd51-29b5015441de
Approved on: 2020-01-31
Published on: 2020-01-31
HGVS expressions
NM_004333.6:c.*7T>C
NM_004333.6(BRAF):c.*7T>C
NC_000007.14:g.140734590A>G
CM000669.2:g.140734590A>G
NC_000007.13:g.140434390A>G
CM000669.1:g.140434390A>G
NC_000007.12:g.140080859A>G
NG_007873.3:g.195175T>C
NM_004333.4:c.*7T>C
NM_001354609.1:c.2281+27T>C
NM_004333.5:c.*7T>C
NR_148928.1:n.3406T>C
NM_001354609.2:c.2281+27T>C
NM_001374244.1:c.*7T>C
NM_001374258.1:c.2401+27T>C
ENST00000288602.10:c.*7T>C
ENST00000479537.5:n.674T>C
ENST00000496384.6:n.1104+27T>C
Evidence submitted by expert panel
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