Record detail

Record identity

Record ID

2b83985fce0b81c92919985d

Release version

webdb_threshold_completion_missing10_20260508

PMID

27935710 PubMed

Title

Quantification of ATP7B Protein in Dried Blood Spots by Peptide Immuno-SRM as a Potential Screen for Wilson's Disease.

Journal

Journal of proteome research

Year

2017

DOI

10.1021/acs.jproteome.6b00828

PMC

PMC5574172 PMC

Variant information

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

Gene

ATP7B

Query variant

NM_000053.4:c.2921C>T

Normalized c.HGVS

c.2921C>T

Normalized p.HGVS

p.(Thr974Met)

Representative genomic HGVS

CM000675.1:g.52520559G>A

Genomic HGVS aliases

CM000675.1:g.52520559G>A; CM000675.2:g.51946423G>A; NC_000013.10:g.52520559G>A; NC_000013.11:g.51946423G>A; NC_000013.9:g.51418560G>A; NG_008806.1:g.70072C>T

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

Needs review

Llm Review Not Conclusive For Removal

Phase-confirmed PM3 evidence

Yes

Phase-unconfirmed biallelic evidence

Yes

Other patient-level evidence

No

PM3 context

Confirmed in trans with p.Ser391 Leu; p.Ser391Leu

PM3 evidence items

2

Allelic configuration type

Confirmed in trans

Retained partner variants

• p.Ser391 Leu
• p.Ser391Leu

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 text window and 2 table windows

Context status

Found in final retained audit context

Text candidate windows

1

Table candidate windows

2

Target c.HGVS validated

No

Target p.HGVS validated

Yes

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

BioC full text

Evidence context scope

Primary audit context

Evidence location

Main article

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