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NM_021830.5(TWNK):c.1172G>A (p.Arg391His) AND Perrault syndrome

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV002516006.1

Allele description [Variation Report for NM_021830.5(TWNK):c.1172G>A (p.Arg391His)]

NM_021830.5(TWNK):c.1172G>A (p.Arg391His)

Gene:
TWNK:twinkle mtDNA helicase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q24.31
Genomic location:
Preferred name:
NM_021830.5(TWNK):c.1172G>A (p.Arg391His)
HGVS:
  • NC_000010.11:g.100989382G>A
  • NG_011646.1:g.3134C>T
  • NG_012624.1:g.6847G>A
  • NM_001163812.2:c.1172G>A
  • NM_001163813.2:c.-119-262G>A
  • NM_001163814.2:c.-119-262G>A
  • NM_001368275.1:c.-57-324G>A
  • NM_021830.5:c.1172G>AMANE SELECT
  • NP_001157284.1:p.Arg391His
  • NP_068602.2:p.Arg391His
  • NC_000010.10:g.102749139G>A
  • NM_021830.4:c.1172G>A
  • NR_160738.1:n.1840G>A
  • NR_160740.1:n.1840G>A
  • NR_160741.1:n.1840G>A
  • NR_160742.1:n.1840G>A
  • Q96RR1:p.Arg391His
Protein change:
R391H; ARG391HIS
Links:
UniProtKB: Q96RR1#VAR_072657; OMIM: 606075.0016; dbSNP: rs556445621
NCBI 1000 Genomes Browser:
rs556445621
Molecular consequence:
  • NM_001163813.2:c.-119-262G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001163814.2:c.-119-262G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368275.1:c.-57-324G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001163812.2:c.1172G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021830.5:c.1172G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_160738.1:n.1840G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160740.1:n.1840G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160741.1:n.1840G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160742.1:n.1840G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Perrault syndrome
Synonyms:
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
Identifiers:
MONDO: MONDO:0017312; MedGen: C0685838; Orphanet: 2855; OMIM: PS233400

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003525960GeneReviews
no classification provided
not providedgermlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.

Morino H, Pierce SB, Matsuda Y, Walsh T, Ohsawa R, Newby M, Hiraki-Kamon K, Kuramochi M, Lee MK, Klevit RE, Martin A, Maruyama H, King MC, Kawakami H.

Neurology. 2014 Nov 25;83(22):2054-61. doi: 10.1212/WNL.0000000000001036. Epub 2014 Oct 29.

PubMed [citation]
PMID:
25355836
PMCID:
PMC4248451

Details of each submission

From GeneReviews, SCV003525960.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024