Record detail

Record identity

Record ID

0871d9345dfe1650651ee61f

Release version

webdb_threshold_completion_missing10_20260508

PMID

37901409 PubMed

Title

Case report: Genotype-phenotype characteristics of nine novel PKD1 mutations in eight Chinese patients with autosomal dominant polycystic kidney disease.

Journal

Frontiers in medicine

Year

2023

DOI

10.3389/fmed.2023.1268307

PMC

PMC10600478 PMC

Variant information

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

Gene

PKD1

Query variant

NM_001009944.3:c.7567G>A

Normalized c.HGVS

c.7567G>A

Normalized p.HGVS

p.(Glu2523Lys)

Representative genomic HGVS

CM000678.1:g.2156228C>T

Genomic HGVS aliases

CM000678.1:g.2156228C>T; CM000678.2:g.2106227C>T; NC_000016.10:g.2106227C>T; NC_000016.8:g.2096229C>T; NC_000016.9:g.2156228C>T; NG_008617.1:g.34672G>A

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

High confidence

Exact query c.HGVS was found in retained evidence.

Phase-confirmed PM3 evidence

No

Phase-unconfirmed biallelic evidence

Yes

Other patient-level evidence

No

PM3 context

Possible compound heterozygous with c.11215C>T; p.Gln3739*

PM3 evidence items

1

Allelic configuration type

Compound heterozygous candidate

Retained partner variants

• c.11215C>T
• p.Gln3739*

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

Context status

Found in final retained audit context

Text candidate windows

1

Table candidate windows

0

Target c.HGVS validated

Yes

Target p.HGVS validated

Yes

Target validation

Target variant matched with phase-unconfirmed biallelic evidence

Source provenance

Reviewed source

Supplementary material

Supplement used by audit

Yes

Supplement available

Yes

Reviewed document format

NXML/JATS full text

Evidence context scope

Supplement-focused audit context

Evidence location

Supp

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