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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 18, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000490450.1

Allele description

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

Genes:
FUT2:fucosyltransferase 2 (H blood group) [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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000267325Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 18, 2016) 		germlinereference population

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
East Asiangermlineunknown2not providednot providednot providednot providedreference population

Citations

PubMed

Molecular basis for secretor type alpha(1,2)-fucosyltransferase gene deficiency in a Japanese population: a fusion gene generated by unequal crossover responsible for the enzyme deficiency.

Koda Y, Soejima M, Liu Y, Kimura H.

Am J Hum Genet. 1996 Aug;59(2):343-50.

PubMed [citation]
PMID:
8755920
PMCID:
PMC1914724

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: Apr 28, 2025