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NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000119389.10

Allele description

NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met)

Gene:
B3GALNT2:beta-1,3-N-acetylgalactosaminyltransferase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q42.3
Genomic location:
Preferred name:
NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met)
Other names:
B3GALNT2, VAL268MET
HGVS:
  • NC_000001.11:g.235465675C>T
  • NG_033219.2:g.43807G>A
  • NM_001277155.3:c.925G>A
  • NM_152490.5:c.802G>AMANE SELECT
  • NP_001264084.1:p.Val309Met
  • NP_689703.1:p.Val268Met
  • NC_000001.10:g.235628992C>T
  • NM_152490.3:c.802G>A
  • NM_152490.4:c.802G>A
  • Q8NCR0:p.Val268Met
  • p.(Val268Met)
Protein change:
V268M; VAL268MET
Links:
UniProtKB: Q8NCR0#VAR_069640; OMIM: 610194.0005; dbSNP: rs367543074
NCBI 1000 Genomes Browser:
rs367543074
Molecular consequence:
  • NM_001277155.3:c.925G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152490.5:c.802G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000154296Leiden Muscular Dystrophy pages (B3GALNT2)
no classification provided
not providedgermline, unknownnot provided

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot provided1not providedliterature only
not providedunknownnot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Leiden Muscular Dystrophy pages (B3GALNT2), SCV000154296.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
2not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided1not providednot providednot providednot providednot providednot provided
2unknownnot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024