Record detail

Record identity

Record ID

dd667c6ae5fc0df11848fb03

Release version

webdb_threshold_completion_missing10_20260508

PMID

30760222 PubMed

Title

Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family.

Journal

BMC medical genetics

Year

2019

DOI

10.1186/s12881-019-0758-2

PMC

PMC6373029 PMC

Variant information

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

Gene

LOXHD1

Query variant

NM_001384474.1:c.2696G>A

Normalized c.HGVS

c.2696G>A

Normalized p.HGVS

p.(Arg899Gln)

Representative genomic HGVS

CM000680.1:g.44140411C>T

Genomic HGVS aliases

CM000680.1:g.44140411C>T; CM000680.2:g.46560448C>T; NC_000018.10:g.46560448C>T; NC_000018.8:g.42394409C>T; NC_000018.9:g.44140411C>T; NG_016646.1:g.101586G>A; and 1 more

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 c.3834G > C; c.5934C > T

PM3 evidence items

2

Allelic configuration type

Compound heterozygous candidate

Retained partner variants

• c.3834G > C
• c.5934C > T

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 1 table window

Context status

Found in final retained audit context

Text candidate windows

1

Table candidate windows

1

Target c.HGVS validated

No

Target p.HGVS validated

No

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

NXML/JATS full text

Evidence context scope

Primary audit context

Evidence location

Main article

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