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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Variant: NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
CA211250
11809 (ClinVar)
Gene: MECP2
Condition: Rett syndrome
Inheritance Mode: X-linked inheritance
UUID: 9b84fa8c-1789-41fa-a192-056f88af3907
Approved on: 2022-05-10
Published on: 2022-07-25
HGVS expressions
NM_001110792.2:c.433C>T
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
NC_000023.11:g.154031431G>A
CM000685.2:g.154031431G>A
NC_000023.10:g.153296882G>A
CM000685.1:g.153296882G>A
NC_000023.9:g.152950076G>A
NG_007107.2:g.110697C>T
NG_007107.3:g.110673C>T
ENST00000303391.11:c.397C>T
ENST00000453960.7:c.433C>T
ENST00000637917.1:n.30C>T
ENST00000303391.10:c.397C>T
ENST00000369957.5:c.*451C>T
ENST00000407218.5:c.433C>T
ENST00000453960.6:c.433C>T
ENST00000486506.5:n.2745C>T
ENST00000611468.1:c.385C>T
ENST00000619732.4:c.397C>T
ENST00000622433.4:c.385C>T
ENST00000628176.2:c.397C>T
NM_001110792.1:c.433C>T
NM_001316337.1:c.118C>T
NM_004992.3:c.397C>T
NM_001316337.2:c.118C>T
NM_001369391.2:c.118C>T
NM_001369392.2:c.118C>T
NM_001369393.2:c.118C>T
NM_001369394.1:c.118C>T
NM_001369394.2:c.118C>T
NM_001386137.1:c.-164C>T
NM_001386138.1:c.-164C>T
NM_001386139.1:c.-164C>T
NM_004992.4:c.397C>T
Evidence submitted by expert panel
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