Record detail

Record identity

Record ID

2e69e90597d4f1b765fd01db

Release version

webdb_threshold_completion_missing10_20260508

PMID

23876334 PubMed

Title

Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.

Journal

Molecular genetics and metabolism

Year

2013

DOI

10.1016/j.ymgme.2013.06.008

PMC

PMC3779837 PMC

Variant information

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

Gene

GALNS

Query variant

NM_000512.5:c.758G>A

Normalized c.HGVS

c.758G>A

Normalized p.HGVS

p.(Arg253Gln)

Representative genomic HGVS

CM000678.1:g.88902133C>T

Genomic HGVS aliases

CM000678.1:g.88902133C>T; CM000678.2:g.88835725C>T; NC_000016.10:g.88835725C>T; NC_000016.8:g.87429634C>T; NC_000016.9:g.88902133C>T; NG_008667.1:g.26242G>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-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

Possible compound heterozygous with c.922T>C; p.C308R

PM3 evidence items

2

Allelic configuration type

Compound heterozygous candidate

Retained partner variants

• c.922T>C
• p.C308R

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: 3 text windows and 2 table windows

Context status

Found in final retained audit context

Text candidate windows

3

Table candidate windows

2

Target c.HGVS validated

Yes

Target p.HGVS validated

Yes

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

BioC full text

Evidence context scope

Primary audit context

Evidence location

Main article

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