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NM_001145710.2(FAM228B):c.907del (p.Gln303fs) AND Essential tremor

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV001543419.1

Allele description [Variation Report for NM_001145710.2(FAM228B):c.907del (p.Gln303fs)]

NM_001145710.2(FAM228B):c.907del (p.Gln303fs)

Gene:
FAM228B:family with sequence similarity 228 member B [Gene - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_001145710.2(FAM228B):c.907del (p.Gln303fs)
HGVS:
  • NC_000002.12:g.24164310del
  • NM_001145710.2:c.907delMANE SELECT
  • NM_001291328.2:c.496del
  • NP_001139182.1:p.Gln303fs
  • NP_001278257.1:p.Gln166fs
  • NC_000002.11:g.24387179=
  • NM_001145710.1:c.906delC
  • NR_111929.2:n.485del
Protein change:
Q166fs
Links:
dbSNP: rs113322110
NCBI 1000 Genomes Browser:
rs113322110
Molecular consequence:
  • NM_001145710.2:c.907del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001291328.2:c.496del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_111929.2:n.485del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Essential tremor
Synonyms:
Benign essential tremor syndrome; Presenile tremor syndrome
Identifiers:
MONDO: MONDO:0003233; MedGen: C0270736; OMIM: PS190300

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001761980University of Washington Center for Mendelian Genomics, University of Washington
no assertion criteria provided
Uncertain significanceinheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Exome-wide rare variant analysis in familial essential tremor.

Diez-Fairen M, Houle G, Ortega-Cubero S, Bandres-Ciga S, Alvarez I, Carcel M, Ibañez L, Fernandez MV, Budde JP, Trotta JR, Tonda R, Chong JX, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics (UWCMG)., Aguilar M, Tartari JP, Gironell A, García-Martín E, Agundez JA, Alonso-Navarro H, Jimenez-Jimenez FJ, et al.

Parkinsonism Relat Disord. 2021 Jan;82:109-116. doi: 10.1016/j.parkreldis.2020.11.021. Epub 2020 Nov 24.

PubMed [citation]
PMID:
33279834
PMCID:
PMC7856267

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001761980.1

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

Last Updated: Dec 24, 2023