Record detail

Record identity

Record ID

d724e38a114113915013c64d

Release version

webdb_threshold_completion_missing10_20260508

PMID

40682330 PubMed

Title

Biallelic Mutations in the Otogelin-Like Gene (OTOGL) Associated With Congenital Non-Syndromic Sensorineural Hearing Loss in a Chinese Family.

Journal

Molecular genetics & genomic medicine

Year

2025

DOI

10.1002/mgg3.70122

PMC

PMC12274630 PMC

Variant information

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

Gene

OTOGL

Query variant

NM_001378609.3:c.442A>G

Normalized c.HGVS

c.442A>G

Normalized p.HGVS

p.(Ile148Val)

Representative genomic HGVS

CM000674.1:g.80615978A>G

Genomic HGVS aliases

CM000674.1:g.80615978A>G; CM000674.2:g.80222198A>G; NC_000012.10:g.79140109A>G; NC_000012.11:g.80615978A>G; NC_000012.12:g.80222198A>G; NG_033008.1:g.17746A>G

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 p.Phe319del

PM3 evidence items

2

Allelic configuration type

Confirmed in trans

Retained partner variants

• p.Phe319del

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: 9 text windows and 1 table window

Context status

Found in final retained audit context

Text candidate windows

9

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

Expanded audit context

Evidence location

Main article

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