Record detail

Record identity

Record ID

f3ea3c929ae86403de8c2668

Release version

webdb_threshold_completion_missing10_20260508

PMID

25216257 PubMed

Title

Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: identification and pathogenicity analysis of a novel SLC25A13 mutation with incomplete penetrance.

Journal

International journal of molecular medicine

Year

2014

DOI

10.3892/ijmm.2014.1929

PMC

PMC4199400 PMC

Variant information

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

Gene

SLC25A13

Query variant

NM_014251.3:c.2T>C

Normalized c.HGVS

c.2T>C

Normalized p.HGVS

p.?

Representative genomic HGVS

CM000669.1:g.95951267A>G

Genomic HGVS aliases

CM000669.1:g.95951267A>G; CM000669.2:g.96321955A>G; NC_000007.12:g.95789203A>G; NC_000007.13:g.95951267A>G; NC_000007.14:g.96321955A>G; NG_012247.1:g.5193T>C; 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

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

Confirmed in trans with c.790G>A; p.V264I

PM3 evidence items

1

Allelic configuration type

Confirmed in trans

Retained partner variants

• c.790G>A
• p.V264I

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: 15 text windows and 1 table window

Context status

Found in final retained audit context

Text candidate windows

15

Table candidate windows

1

Target c.HGVS validated

Yes

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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