NM_021830.4(TWNK):c.955A>G (p.Lys319Glu) AND Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

Clinical significance:Pathogenic (Last evaluated: Jul 22, 2010)

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:
RCV000020867.1

Allele description [Variation Report for NM_021830.4(TWNK):c.955A>G (p.Lys319Glu)]

NM_021830.4(TWNK):c.955A>G (p.Lys319Glu)

Gene:
TWNK:twinkle mtDNA helicase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q24.31
Genomic location:
Preferred name:
NM_021830.4(TWNK):c.955A>G (p.Lys319Glu)
HGVS:
  • NC_000010.11:g.100989165A>G
  • NG_012624.1:g.6630A>G
  • NM_001163813.1:c.-119-479A>G
  • NM_021830.4:c.955A>G
  • NP_068602.2:p.Lys319Glu
  • NC_000010.10:g.102748922A>G
  • Q96RR1:p.Lys319Glu
Protein change:
K319E; LYS319GLU
Links:
UniProtKB: Q96RR1#VAR_023649; OMIM: 606075.0010; dbSNP: rs80356543
NCBI 1000 Genomes Browser:
rs80356543
Molecular consequence:
  • NM_001163813.1:c.-119-479A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_021830.4:c.955A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO)
Synonyms:
SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE; EPILEPSY, PROGRESSIVE MYOCLONIC, 5; Ataxia neuropathy spectrum disorder
Identifiers:
MedGen: C1843851; Orphanet: 254818; OMIM: 607459

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000041458GeneReviewsno assertion criteria providedpathologic
(Jul 22, 2010)
not providedcuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Details of each submission

From GeneReviews, SCV000041458.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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