NM_015074.3(KIF1B):c.2473G>A (p.Glu825Lys) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Sep 23, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000414814.1

Allele description [Variation Report for NM_015074.3(KIF1B):c.2473G>A (p.Glu825Lys)]

NM_015074.3(KIF1B):c.2473G>A (p.Glu825Lys)

Gene:
KIF1B:kinesin family member 1B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.22
Genomic location:
Preferred name:
NM_015074.3(KIF1B):c.2473G>A (p.Glu825Lys)
HGVS:
  • NC_000001.11:g.10324831G>A
  • NG_008069.1:g.119126G>A
  • NM_001365951.2:c.2611G>A
  • NM_001365952.1:c.2611G>A
  • NM_015074.3:c.2473G>A
  • NP_001352880.1:p.Glu871Lys
  • NP_001352881.1:p.Glu871Lys
  • NP_055889.2:p.Glu825Lys
  • LRG_252t1:c.2473G>A
  • LRG_252:g.119126G>A
  • LRG_252p1:p.Glu825Lys
  • NC_000001.10:g.10384889G>A
Protein change:
E825K
Links:
dbSNP: rs763122049
NCBI 1000 Genomes Browser:
rs763122049
Molecular consequence:
  • NM_001365951.2:c.2611G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365952.1:c.2611G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015074.3:c.2473G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Joint laxity
Synonyms:
Lax joints; Loose-jointedness; Loosejointedness; See all synonyms [MedGen]
Identifiers:
MedGen: C0086437; Human Phenotype Ontology: HP:0001388
Name:
EMG abnormality
Synonyms:
Abnormal electromyography finding; Abnormal EMG; Electromyogram abnormal; See all synonyms [MedGen]
Identifiers:
MedGen: C0476403; Human Phenotype Ontology: HP:0003457
Name:
EMG: myopathic abnormalities
Synonyms:
EMG: myopathic changes; EMG: myopathy; Myopathic electromyogram
Identifiers:
MedGen: C4021726; Human Phenotype Ontology: HP:0003458
Name:
Pain
Identifiers:
MedGen: C0030193; Human Phenotype Ontology: HP:0012531

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000492549Centre for Mendelian Genomics,University Medical Centre Ljubljanacriteria provided, single submitter
Uncertain significance
(Sep 23, 2015)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Centre for Mendelian Genomics,University Medical Centre Ljubljana, SCV000492549.1

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

Last Updated: Apr 18, 2021

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