NM_000511.6(FUT2):c.604C>T (p.Arg202Ter) AND Vitamin b12 plasma level quantitative trait locus 1

Clinical significance:Pathogenic (Last evaluated: Mar 18, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000490450.1

Allele description [Variation Report for NM_000511.6(FUT2):c.604C>T (p.Arg202Ter)]

NM_000511.6(FUT2):c.604C>T (p.Arg202Ter)

Genes:
FUT2:fucosyltransferase 2 [Gene - OMIM - HGNC]
LOC105447645:uncharacterized LOC105447645 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.33
Genomic location:
Preferred name:
NM_000511.6(FUT2):c.604C>T (p.Arg202Ter)
HGVS:
  • NC_000019.10:g.48703560C>T
  • NG_007511.1:g.12590C>T
  • NM_000511.6:c.604C>TMANE SELECT
  • NM_001097638.3:c.604C>T
  • NP_000502.4:p.Arg202Ter
  • NP_001091107.1:p.Arg202Ter
  • LRG_811t1:c.604C>T
  • LRG_811:g.12590C>T
  • LRG_811p1:p.Arg202Ter
  • NC_000019.9:g.49206817C>T
  • NM_000511.5:c.604C>T
  • NR_131188.1:n.289G>A
Protein change:
R202*
Links:
dbSNP: rs1800028
NCBI 1000 Genomes Browser:
rs1800028
Molecular consequence:
  • NR_131188.1:n.289G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000511.6:c.604C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001097638.3:c.604C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Vitamin b12 plasma level quantitative trait locus 1 (B12QTL1)
Identifiers:
MedGen: C2674252; OMIM: 612542

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000267325Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Centercriteria provided, single submitter
Pathogenic
(Mar 18, 2016)
germlinereference population

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
East Asiangermlineunknown2not providednot providednot providednot providedreference population

Citations

PubMed

A second nonsecretor allele of the blood group alpha(1,2)fucosyl-transferase gene (FUT2).

Henry S, Mollicone R, Lowe JB, Samuelsson B, Larson G.

Vox Sang. 1996;70(1):21-5.

PubMed [citation]
PMID:
8928486
See all PubMed Citations (3)

Details of each submission

From Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center, SCV000267325.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1East Asian2not providednot providedreference population PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Feb 19, 2021

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