Record detail

Record identity

Record ID

27e192cd03d11e72d345fe31

Release version

webdb_threshold_completion_missing10_20260508

PMID

32082103 PubMed

Title

Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis.

Journal

Frontiers in neuroscience

Year

2020

DOI

10.3389/fnins.2019.01344

PMC

PMC7001677 PMC

Variant information

This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.

Gene

ALDH5A1

Query variant

NM_001080.3:c.1354G>C

Normalized c.HGVS

c.1354G>C

Normalized p.HGVS

p.(Glu452Gln)

Representative genomic HGVS

CM000668.1:g.24532357G>C

Genomic HGVS aliases

CM000668.1:g.24532357G>C; CM000668.2:g.24532129G>C; NC_000006.10:g.24640336G>C; NC_000006.11:g.24532357G>C; NC_000006.12:g.24532129G>C; NG_008161.1:g.42161G>C

CoGenEx-PM3 evidence

Evidence status is assigned at the PMID × variant level and should not be interpreted as a final variant-level pathogenicity classification.

Evidence status

Phase-confirmed PM3 evidence

Query-evidence confidence

High confidence

Exact query c.HGVS was found in retained evidence.

Phase-confirmed PM3 evidence

Yes

Phase-unconfirmed biallelic evidence

Yes

Other patient-level evidence

No

PM3 context

Confirmed in trans with c.454C>T; p.Pro152Ser

PM3 evidence items

1

Allelic configuration type

Confirmed in trans

Retained partner variants

• c.454C>T
• p.Pro152Ser

Partner variants are retained structured tokens from CoGenEx-PM3 evidence items. They are not transcript-normalized in this release.

Candidate context and target validation

Candidate context windows are places selected for audit because the query or its aliases may be relevant. They are not the same as a validated match to the target c.HGVS or p.HGVS expression.

Candidate context

Candidate context retained: 1 table window

Context status

Found in final retained audit context

Text candidate windows

0

Table candidate windows

1

Target c.HGVS validated

Yes

Target p.HGVS validated

No

Target validation

Target variant matched with phase-confirmed PM3 evidence

Source provenance

Reviewed source

Main article

Supplement used by audit

No

Supplement available

No

Reviewed document format

NXML/JATS full text

Evidence context scope

Expanded audit context

Evidence location

Main article

Help improve this record