Record detail

Record identity

Record ID

fbbf80c605276b12c5e6a58c

Release version

webdb_threshold_completion_missing10_20260508

PMID

20673864 PubMed

Title

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.

Journal

American journal of human genetics

Year

2010

DOI

10.1016/j.ajhg.2010.07.007

PMC

PMC2917704 PMC

Variant information

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

Gene

HSD17B4

Query variant

NM_000414.4:c.650A>G

Normalized c.HGVS

c.650A>G

Normalized p.HGVS

p.(Tyr217Cys)

Representative genomic HGVS

CM000667.1:g.118824914A>G

Genomic HGVS aliases

CM000667.1:g.118824914A>G; CM000667.2:g.119489219A>G; NC_000005.10:g.119489219A>G; NC_000005.8:g.118852813A>G; NC_000005.9:g.118824914A>G; NG_008182.1:g.41767A>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 c.1704T>A; Y568stop; p.Y568X

PM3 evidence items

2

Allelic configuration type

Confirmed in trans

Retained partner variants

• Y568stop
• c.1704T>A
• p.Y568X

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: 10 text windows and 1 table window

Context status

Found in final retained audit context

Text candidate windows

10

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

HTML full text

Evidence context scope

Primary audit context

Evidence location

Main article

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