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.
Variant: NM_004992.3(MECP2):c.806delG (p.Gly269Alafs)
CA199475
95202 (ClinVar)
Gene: MECP2
Condition: Rett syndrome
Inheritance Mode: X-linked inheritance
UUID: 1e897fde-76a7-45dc-8f7f-6e1191668335
Approved on: 2021-03-09
Published on: 2021-05-07
HGVS expressions
NM_004992.3:c.806delG
NM_004992.3:c.806del
NM_004992.3(MECP2):c.806delG (p.Gly269Alafs)
ENST00000303391.11:c.806del
ENST00000453960.7:c.842del
ENST00000637917.1:n.66-86del
ENST00000303391.10:c.806del
ENST00000407218.5:c.*178del
ENST00000453960.6:c.842del
ENST00000619732.4:c.806del
ENST00000622433.4:c.794del
ENST00000628176.2:c.*178del
NM_001110792.1:c.842del
NM_001316337.1:c.527del
NM_001110792.2:c.842del
NM_001316337.2:c.527del
NM_001369391.2:c.527del
NM_001369392.2:c.527del
NM_001369393.2:c.527del
NM_001369394.1:c.527del
NM_001369394.2:c.527del
NM_001386137.1:c.137del
NM_001386138.1:c.137del
NM_001386139.1:c.137del
NM_004992.4:c.806del
NC_000023.11:g.154031025del
CM000685.2:g.154031025del
NC_000023.10:g.153296476del
CM000685.1:g.153296476del
NC_000023.9:g.152949670del
NG_007107.2:g.111106del
NG_007107.3:g.111082del
Evidence submitted by expert panel
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