The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
- No CSPEC related information was provided by the message!
- No CSPEC computed assertion could be determined for this classification!
- See Evidence submitted by expert panel for details.
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA199501
189763 (ClinVar)
Gene: MECP2
Condition: Rett syndrome
Inheritance Mode: X-linked inheritance
UUID: c48f555f-9ddc-4964-bf94-b6f391f2220d
Approved on: 2022-12-08
Published on: 2022-12-23
HGVS expressions
NM_001110792.2:c.6CGC[8]
NC_000023.11:g.154097657_154097662dup
CM000685.2:g.154097657_154097662dup
NC_000023.10:g.153363114_153363119dup
CM000685.1:g.153363114_153363119dup
NC_000023.9:g.153016308_153016313dup
NG_007107.2:g.44474_44479dup
NG_007107.3:g.44456_44461dup
ENST00000303391.11:c.-143_-138dup
ENST00000453960.7:c.18_23dup
ENST00000303391.10:c.-143_-138dup
ENST00000369957.5:c.-143_-138dup
ENST00000407218.5:c.18_23dup
ENST00000453960.6:c.18_23dup
ENST00000619732.4:c.-143_-138dup
ENST00000627864.1:n.33_38dup
ENST00000628176.2:c.-143_-138dup
ENST00000631210.1:n.305+7133_305+7138dup
NM_001110792.1:c.18_23dup
NM_001316337.1:c.-590_-585dup
NM_004992.3:c.-143_-138dup
NM_001110792.2:c.18_23dup
NM_001316337.2:c.-590_-585dup
NM_001369391.2:c.-885_-880dup
NM_001369392.2:c.-534_-529dup
NM_001369393.2:c.-410_-405dup
NM_001386137.1:c.-815_-810dup
NM_001386138.1:c.-703_-698dup
NM_001386139.1:c.-579_-574dup
NM_004992.4:c.-143_-138dup
More
Evidence submitted by expert panel
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