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.1490_1493del (p.Val497fs)
CA273848
143485 (ClinVar)
Gene: MECP2
Condition: Rett syndrome
Inheritance Mode: X-linked inheritance
UUID: 59542a41-0c1c-47cb-8ce1-4e85f89f2ae4
Approved on: 2022-05-10
Published on: 2022-06-28
HGVS expressions
NM_001110792.2:c.1490_1493del
NM_001110792.2(MECP2):c.1490_1493del (p.Val497fs)
NC_000023.11:g.154030373_154030376del
CM000685.2:g.154030373_154030376del
NC_000023.10:g.153295824_153295827del
CM000685.1:g.153295824_153295827del
NC_000023.9:g.152949018_152949021del
NG_007107.2:g.111754_111757del
NG_007107.3:g.111730_111733del
ENST00000303391.11:c.1454_1457del
ENST00000453960.7:c.1490_1493del
ENST00000303391.10:c.1454_1457del
ENST00000453960.6:c.1490_1493del
ENST00000619732.4:c.1450_1453del
ENST00000628176.2:c.*826_*829del
NM_001110792.1:c.1490_1493del
NM_001316337.1:c.1175_1178del
NM_004992.3:c.1454_1457del
NM_001316337.2:c.1175_1178del
NM_001369391.2:c.1175_1178del
NM_001369392.2:c.1175_1178del
NM_001369393.2:c.1175_1178del
NM_001369394.1:c.1175_1178del
NM_001369394.2:c.1175_1178del
NM_001386137.1:c.785_788del
NM_001386138.1:c.785_788del
NM_001386139.1:c.785_788del
NM_004992.4:c.1454_1457del
Evidence submitted by expert panel
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