Record detail

Record identity

Record ID

5c7becf59ef0b1a537a72470

Release version

webdb_threshold_completion_missing10_20260508

PMID

39596651 PubMed

Title

Segregation of Trans Mutations in the CDH23 Gene in an Emirati Family with Sensorineural Hearing Loss.

Journal

Genes

Year

2024

DOI

10.3390/genes15111451

PMC

PMC11593428 PMC

Variant information

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

Gene

CDH23

Query variant

NM_022124.6:c.5168G>A

Normalized c.HGVS

c.5168G>A

Normalized p.HGVS

p.(Arg1723His)

Representative genomic HGVS

CM000672.1:g.73538046G>A

Genomic HGVS aliases

CM000672.1:g.73538046G>A; CM000672.2:g.71778289G>A; NC_000010.10:g.73538046G>A; NC_000010.11:g.71778289G>A; NC_000010.9:g.73208052G>A; NG_008835.1:g.386343G>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-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.264G>A; p.Trp88Ter

PM3 evidence items

2

Allelic configuration type

Confirmed in trans

Retained partner variants

• c.264G>A
• p.Trp88Ter

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: 11 text windows and 1 table window

Context status

Found in final retained audit context

Text candidate windows

11

Table candidate windows

1

Target c.HGVS validated

Yes

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

NXML/JATS full text

Evidence context scope

Primary audit context

Evidence location

Main article

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