NM_000511.6(FUT2):c.604C>T (p.Arg202Ter) AND Familial Otitis Media

Clinical significance:confers sensitivity

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001291499.1

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:
Familial Otitis Media
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001480003University of Washington Center for Mendelian Genomics, University of Washingtonno assertion criteria providedconfers sensitivityunknownresearch

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

FUT2 Variants Confer Susceptibility to Familial Otitis Media.

Santos-Cortez RLP, Chiong CM, Frank DN, Ryan AF, Giese APJ, Bootpetch Roberts T, Daly KA, Steritz MJ, Szeremeta W, Pedro M, Pine H, Yarza TKL, Scholes MA, Llanes EGDV, Yousaf S, Friedman N, Tantoco MLC, Wine TM, Labra PJ, Benoit J, Ruiz AG, de la Cruz RAR, et al.

Am J Hum Genet. 2018 Nov 1;103(5):679-690. doi: 10.1016/j.ajhg.2018.09.010. Epub 2018 Oct 25.

PubMed [citation]
PMID:
30401457
PMCID:
PMC6217759

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001480003.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 20, 2021

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