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_014297.5(ETHE1):c.604dup (p.Val202fs)
CA658799240
504504 (ClinVar)
Gene: ETHE1
Condition: ethylmalonic encephalopathy
Inheritance Mode: Autosomal recessive inheritance
UUID: afe48119-3f05-410f-8987-7559d29b982c
Approved on: 2021-05-07
Published on: 2021-05-07
HGVS expressions
NM_014297.5:c.604dup
NM_014297.5(ETHE1):c.604dup (p.Val202fs)
ENST00000292147.7:c.604dup
ENST00000292147.6:c.604dup
ENST00000594342.5:c.*167dup
ENST00000598330.1:c.*167dup
ENST00000600651.5:c.604dup
NM_014297.3:c.604dup
NM_001320867.1:c.571dup
NM_001320868.1:c.235dup
NM_001320869.1:c.310dup
NM_014297.4:c.604dup
NM_001320867.2:c.571dup
NM_001320868.2:c.235dup
NM_001320869.2:c.310dup
NC_000019.10:g.43508052dup
CM000681.2:g.43508052dup
NC_000019.9:g.44012204dup
CM000681.1:g.44012204dup
NC_000019.8:g.48704044dup
NG_008141.1:g.24193dup
Evidence submitted by expert panel
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