NM_014629.4(ARHGEF10):c.133C>T (p.Gln45Ter) AND Slowed nerve conduction velocity, autosomal dominant

Clinical significance:Uncertain significance

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:
RCV000521194.1

Allele description [Variation Report for NM_014629.4(ARHGEF10):c.133C>T (p.Gln45Ter)]

NM_014629.4(ARHGEF10):c.133C>T (p.Gln45Ter)

Gene:
ARHGEF10:Rho guanine nucleotide exchange factor 10 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p23.3
Genomic location:
Preferred name:
NM_014629.4(ARHGEF10):c.133C>T (p.Gln45Ter)
HGVS:
  • NC_000008.11:g.1858055C>T
  • NG_008480.1:g.39073C>T
  • NM_001308152.2:c.133C>T
  • NM_001308153.2:c.205C>T
  • NM_014629.4:c.133C>TMANE SELECT
  • NP_001295081.1:p.Gln45Ter
  • NP_001295082.1:p.Gln69Ter
  • NP_055444.2:p.Gln45Ter
  • LRG_234:g.39073C>T
  • NC_000008.10:g.1806221C>T
  • NM_014629.3:c.133C>T
Protein change:
Q45*
Links:
dbSNP: rs1467438651
NCBI 1000 Genomes Browser:
rs1467438651
Molecular consequence:
  • NM_001308152.2:c.133C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001308153.2:c.205C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_014629.4:c.133C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Slowed nerve conduction velocity, autosomal dominant (SNCV)
Identifiers:
MONDO: MONDO:0011998; MedGen: C1842357; Orphanet: 140481; OMIM: 608236

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000612164Institute of Human Genetics,Cologne Universityno assertion criteria providedUncertain significancegermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Institute of Human Genetics,Cologne University, SCV000612164.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 17, 2020

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