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.
CA199495
156059 (ClinVar)
Gene: MECP2
Condition: Rett syndrome
Inheritance Mode: X-linked inheritance
UUID: d1a21afb-c08d-4e51-a8d3-9b7e4c179254
HGVS expressions
NM_001110792.2:c.413+6_413+9del
NC_000023.11:g.154032205_154032208del
CM000685.2:g.154032205_154032208del
NC_000023.10:g.153297656_153297659del
CM000685.1:g.153297656_153297659del
NC_000023.9:g.152950850_152950853del
NG_007107.2:g.109927_109930del
NG_007107.3:g.109903_109906del
ENST00000303391.11:c.377+6_377+9del
ENST00000453960.7:c.413+6_413+9del
ENST00000637917.1:n.10+6_10+9del
ENST00000303391.10:c.377+6_377+9del
ENST00000369957.5:c.*431+6_*431+9del
ENST00000407218.5:c.413+6_413+9del
ENST00000453960.6:c.413+6_413+9del
ENST00000486506.5:n.2725+6_2725+9del
ENST00000611468.1:c.365+6_365+9del
ENST00000619732.4:c.377+6_377+9del
ENST00000622433.4:c.365+6_365+9del
ENST00000628176.2:c.377+6_377+9del
NM_001110792.1:c.413+6_413+9del
NM_001316337.1:c.98+6_98+9del
NM_004992.3:c.377+6_377+9del
NM_001316337.2:c.98+6_98+9del
NM_001369391.2:c.98+6_98+9del
NM_001369392.2:c.98+6_98+9del
NM_001369393.2:c.98+6_98+9del
NM_001369394.1:c.98+6_98+9del
NM_001369394.2:c.98+6_98+9del
NM_001386137.1:c.-184+6_-184+9del
NM_001386138.1:c.-184+6_-184+9del
NM_001386139.1:c.-184+6_-184+9del
NM_004992.4:c.377+6_377+9del
NM_001110792.2(MECP2):c.413+6_413+9del
Evidence submitted by expert panel
Approved on: 2021-10-26
Published on: 2021-12-27
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