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.1174_1199del (p.Val392fs)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA232898
143345 (ClinVar)
Gene: MECP2
Condition: Rett syndrome
Inheritance Mode: X-linked inheritance
UUID: 670ea38e-226e-4add-8648-64f36bd0bdbb
Approved on: 2022-05-10
Published on: 2022-06-28
HGVS expressions
NM_001110792.2:c.1174_1199del
NM_001110792.2(MECP2):c.1174_1199del (p.Val392fs)
NC_000023.11:g.154030671_154030696del
CM000685.2:g.154030671_154030696del
NC_000023.10:g.153296122_153296147del
CM000685.1:g.153296122_153296147del
NC_000023.9:g.152949316_152949341del
NG_007107.2:g.111438_111463del
NG_007107.3:g.111414_111439del
ENST00000303391.11:c.1138_1163del
ENST00000453960.7:c.1174_1199del
ENST00000303391.10:c.1138_1163del
ENST00000407218.5:c.*510_*535del
ENST00000453960.6:c.1174_1199del
ENST00000619732.4:c.1138_1163del
ENST00000628176.2:c.*510_*535del
NM_001110792.1:c.1174_1199del
NM_001316337.1:c.859_884del
NM_004992.3:c.1138_1163del
NM_001316337.2:c.859_884del
NM_001369391.2:c.859_884del
NM_001369392.2:c.859_884del
NM_001369393.2:c.859_884del
NM_001369394.1:c.859_884del
NM_001369394.2:c.859_884del
NM_001386137.1:c.469_494del
NM_001386138.1:c.469_494del
NM_001386139.1:c.469_494del
NM_004992.4:c.1138_1163del
More
Evidence submitted by expert panel
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