Record detail

Record identity

Record ID

b88a0e766bf2259a25e3da23

Release version

webdb_threshold_completion_missing10_20260508

PMID

37660282 PubMed

Title

Wilson disease-causing mutations in the carboxyl terminus of ATP7B regulates its localization and Golgi exit selectively in the unpolarized cells.

Journal

Metallomics : integrated biometal science

Year

2023

DOI

10.1093/mtomcs/mfad051

PMC

PMC10506129 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.4277G>T

Normalized c.HGVS

c.4277G>T

Normalized p.HGVS

p.(Ser1426Ile)

Representative genomic HGVS

CM000675.1:g.52509013C>A

Genomic HGVS aliases

CM000675.1:g.52509013C>A; CM000675.2:g.51934877C>A; NC_000013.10:g.52509013C>A; NC_000013.11:g.51934877C>A; NC_000013.9:g.51407014C>A; NG_008806.1:g.81618G>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-unconfirmed biallelic evidence

Query-evidence confidence

Needs review

Llm Review Not Conclusive For Removal

Phase-confirmed PM3 evidence

No

Phase-unconfirmed biallelic evidence

Yes

Other patient-level evidence

No

PM3 context

Possible compound heterozygous with A1003V

PM3 evidence items

1

Allelic configuration type

Compound heterozygous candidate

Retained partner variants

• A1003V

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: 13 text windows and 2 table windows

Context status

Found in final retained audit context

Text candidate windows

13

Table candidate windows

2

Target c.HGVS validated

No

Target p.HGVS validated

Yes

Target validation

Target variant matched with phase-unconfirmed biallelic evidence

Source provenance

Reviewed source

Main article

Supplement used by audit

No

Supplement available

No

Reviewed document format

HTML full text

Evidence context scope

Primary audit context

Evidence location

Main article

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