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NM_001098816.3(TENM4):c.1262C>T (p.Pro421Leu) AND Tremor, hereditary essential, 5

Germline classification:
Pathogenic (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:
RCV001848594.1

Allele description [Variation Report for NM_001098816.3(TENM4):c.1262C>T (p.Pro421Leu)]

NM_001098816.3(TENM4):c.1262C>T (p.Pro421Leu)

Gene:
TENM4:teneurin transmembrane protein 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q14.1
Genomic location:
Preferred name:
NM_001098816.3(TENM4):c.1262C>T (p.Pro421Leu)
HGVS:
  • NC_000011.10:g.78856172G>A
  • NG_051803.1:g.589480C>T
  • NM_001098816.3:c.1262C>TMANE SELECT
  • NP_001092286.2:p.Pro421Leu
  • NC_000011.9:g.78567217G>A
  • NM_001098816.2:c.1262C>T
Protein change:
P421L
Links:
dbSNP: rs2136208238
NCBI 1000 Genomes Browser:
rs2136208238
Molecular consequence:
  • NM_001098816.3:c.1262C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Tremor, hereditary essential, 5 (ETM5)
Identifiers:
MONDO: MONDO:0014756; MedGen: C4225223; OMIM: 616736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002104225Department of Traditional Chinese Medicine, Fujian Provincial Hospital
no assertion criteria provided
Pathogenicde novoresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novounknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.

Hor H, Francescatto L, Bartesaghi L, Ortega-Cubero S, Kousi M, Lorenzo-Betancor O, Jiménez-Jiménez FJ, Gironell A, Clarimón J, Drechsel O, Agúndez JA, Kenzelmann Broz D, Chiquet-Ehrismann R, Lleó A, Coria F, García-Martin E, Alonso-Navarro H, Martí MJ, Kulisevsky J, Hor CN, Ossowski S, Chrast R, et al.

Hum Mol Genet. 2015 Oct 15;24(20):5677-86. doi: 10.1093/hmg/ddv281. Epub 2015 Jul 17.

PubMed [citation]
PMID:
26188006
PMCID:
PMC4692992

Details of each submission

From Department of Traditional Chinese Medicine, Fujian Provincial Hospital, SCV002104225.1

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

Last Updated: Dec 24, 2023