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NM_021830.5(TWNK):c.1519G>A (p.Val507Ile) 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:
RCV002514866.1

Allele description [Variation Report for NM_021830.5(TWNK):c.1519G>A (p.Val507Ile)]

NM_021830.5(TWNK):c.1519G>A (p.Val507Ile)

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.1519G>A (p.Val507Ile)
HGVS:
  • NC_000010.11:g.100990470G>A
  • NG_011646.1:g.2046C>T
  • NG_012624.1:g.7935G>A
  • NM_001163812.2:c.1519G>A
  • NM_001163813.2:c.157G>A
  • NM_001163814.2:c.157G>A
  • NM_001368275.1:c.157G>A
  • NM_021830.5:c.1519G>AMANE SELECT
  • NP_001157284.1:p.Val507Ile
  • NP_001157285.1:p.Val53Ile
  • NP_001157286.1:p.Val53Ile
  • NP_001355204.1:p.Val53Ile
  • NP_068602.2:p.Val507Ile
  • NC_000010.10:g.102750227G>A
  • NM_021830.4:c.1519G>A
  • NR_160738.1:n.2187G>A
  • NR_160739.1:n.347G>A
  • NR_160740.1:n.2125G>A
  • NR_160741.1:n.2125G>A
  • NR_160742.1:n.2125G>A
  • Q96RR1:p.Val507Ile
Protein change:
V507I; VAL507ILE
Links:
UniProtKB: Q96RR1#VAR_072659; OMIM: 606075.0019; dbSNP: rs369588002
NCBI 1000 Genomes Browser:
rs369588002
Molecular consequence:
  • NM_001163812.2:c.1519G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001163813.2:c.157G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001163814.2:c.157G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368275.1:c.157G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021830.5:c.1519G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_160738.1:n.2187G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160739.1:n.347G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160740.1:n.2125G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160741.1:n.2125G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160742.1:n.2125G>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
SCV003525963GeneReviews
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, SCV003525963.1

#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: Feb 20, 2024