U.S. flag

An official website of the United States government

NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln) AND Infantile onset spinocerebellar ataxia

Germline classification:
Pathogenic (1 submission)
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001542762.3

Allele description [Variation Report for NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln)]

NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln)

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.1001G>A (p.Arg334Gln)
HGVS:
  • NC_000010.11:g.100989211G>A
  • NG_011646.1:g.3305C>T
  • NG_012624.1:g.6676G>A
  • NM_001163812.2:c.1001G>A
  • NM_001163813.2:c.-119-433G>A
  • NM_001163814.2:c.-119-433G>A
  • NM_001368275.1:c.-57-495G>A
  • NM_021830.5:c.1001G>AMANE SELECT
  • NP_001157284.1:p.Arg334Gln
  • NP_068602.2:p.Arg334Gln
  • NC_000010.10:g.102748968G>A
  • NM_021830.4:c.1001G>A
  • NR_160738.1:n.1669G>A
  • NR_160740.1:n.1669G>A
  • NR_160741.1:n.1669G>A
  • NR_160742.1:n.1669G>A
  • Q96RR1:p.Arg334Gln
Protein change:
R334Q; ARG334GLN
Links:
UniProtKB: Q96RR1#VAR_023651; OMIM: 606075.0008; dbSNP: rs28937887
NCBI 1000 Genomes Browser:
rs28937887
Molecular consequence:
  • NM_001163813.2:c.-119-433G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001163814.2:c.-119-433G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368275.1:c.-57-495G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001163812.2:c.1001G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021830.5:c.1001G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_160738.1:n.1669G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160740.1:n.1669G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160741.1:n.1669G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160742.1:n.1669G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Infantile onset spinocerebellar ataxia (MTDPS7)
Synonyms:
OHAHA SYNDROME; SPINOCEREBELLAR ATAXIA, INFANTILE, WITH SENSORY NEUROPATHY; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010060; MedGen: C1849096; Orphanet: 1186; OMIM: 271245

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001760246Genomics England Pilot Project, Genomics England
criteria provided, single submitter

(ACGS Guidelines, 2016)		Pathogenicgermlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Genomics England Pilot Project, Genomics England, SCV001760246.1

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

Last Updated: Jun 22, 2025