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.1165_1234del (p.Lys389fs)
CA294622
156615 (ClinVar)
Gene: MECP2
Condition: Rett syndrome
Inheritance Mode: X-linked inheritance
UUID: b50a48a5-25e8-47e2-a079-2c0c7b3b7de9
Approved on: 2022-07-21
Published on: 2022-09-06
HGVS expressions
NM_001110792.2:c.1165_1234del
NM_001110792.2(MECP2):c.1165_1234del (p.Lys389fs)
NC_000023.11:g.154030635_154030704del
CM000685.2:g.154030635_154030704del
NC_000023.10:g.153296086_153296155del
CM000685.1:g.153296086_153296155del
NC_000023.9:g.152949280_152949349del
NG_007107.2:g.111429_111498del
NG_007107.3:g.111405_111474del
ENST00000303391.11:c.1129_1198del
ENST00000453960.7:c.1165_1234del
ENST00000303391.10:c.1129_1198del
ENST00000407218.5:c.*501_*570del
ENST00000453960.6:c.1165_1234del
ENST00000619732.4:c.1129_1198del
ENST00000628176.2:c.*501_*570del
NM_001110792.1:c.1165_1234del
NM_001316337.1:c.850_919del
NM_004992.3:c.1129_1198del
NM_001316337.2:c.850_919del
NM_001369391.2:c.850_919del
NM_001369392.2:c.850_919del
NM_001369393.2:c.850_919del
NM_001369394.1:c.850_919del
NM_001369394.2:c.850_919del
NM_001386137.1:c.460_529del
NM_001386138.1:c.460_529del
NM_001386139.1:c.460_529del
NM_004992.4:c.1129_1198del
Evidence submitted by expert panel
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