U.S. flag

An official website of the United States government

NM_001195248.2(APTX):c.-5+2T>G AND Coenzyme Q10 deficiency, primary, 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 7, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000721992.1

Allele description [Variation Report for NM_001195248.2(APTX):c.-5+2T>G]

NM_001195248.2(APTX):c.-5+2T>G

Gene:
APTX:aprataxin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p21.1
Genomic location:
Preferred name:
NM_001195248.2(APTX):c.-5+2T>G
HGVS:
  • NC_000009.12:g.33001565A>C
  • NG_012821.2:g.28567T>G
  • NG_116134.1:g.481A>C
  • NM_001195248.2:c.-5+2T>GMANE SELECT
  • NM_001195249.2:c.-237T>G
  • NM_001195250.2:c.-5+2T>G
  • NM_001195251.2:c.-111+2T>G
  • NM_001195252.2:c.-5+2T>G
  • NM_001195254.2:c.-54T>G
  • NM_001368995.1:c.-4-11670T>G
  • NM_001368996.1:c.-4-11670T>G
  • NM_001368997.1:c.-4-11670T>G
  • NM_001368998.1:c.-54T>G
  • NM_001368999.1:c.-4-11670T>G
  • NM_001369000.1:c.-4-11670T>G
  • NM_001369001.1:c.-4-11670T>G
  • NM_001369002.1:c.-263-11670T>G
  • NM_001369003.1:c.-263-11670T>G
  • NM_001369004.1:c.-222+2T>G
  • NM_001369005.1:c.-370+2T>G
  • NM_001369006.1:c.-264+2T>G
  • NM_001370669.1:c.-264+2T>G
  • NM_001370670.1:c.-313T>G
  • NM_001370673.1:c.-496T>G
  • NM_175069.3:c.-5+2T>G
  • NM_175073.3:c.-111+2T>G
  • NC_000009.11:g.33001563A>C
  • NM_001195248.1:c.38+2T>G
  • NM_001195249.1:c.-237T>G
  • NM_001195254.1:c.-54T>G
  • NR_036578.1:n.48T>G
  • NR_036579.1:n.12T>G
  • NR_160931.1:n.64T>G
Links:
dbSNP: rs1563993041
NCBI 1000 Genomes Browser:
rs1563993041
Molecular consequence:
  • NM_001195249.2:c.-237T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001195254.2:c.-54T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001368998.1:c.-54T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001370670.1:c.-313T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001370673.1:c.-496T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001368995.1:c.-4-11670T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368996.1:c.-4-11670T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368997.1:c.-4-11670T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368999.1:c.-4-11670T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369000.1:c.-4-11670T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369001.1:c.-4-11670T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369002.1:c.-263-11670T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369003.1:c.-263-11670T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NR_160931.1:n.64T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001195248.2:c.-5+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001195250.2:c.-5+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001195251.2:c.-111+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001195252.2:c.-5+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369004.1:c.-222+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369005.1:c.-370+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369006.1:c.-264+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001370669.1:c.-264+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_175069.3:c.-5+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_175073.3:c.-111+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Coenzyme Q10 deficiency, primary, 1
Synonyms:
UBIQUINONE DEFICIENCY 1; COENZYME Q DEFICIENCY 1; CoQ DEFICIENCY 1
Identifiers:
MONDO: MONDO:0011829; MedGen: C3551954; Orphanet: 255249; OMIM: 607426

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
SCV000853148SingHealth Duke-NUS Institute of Precision Medicine
no assertion criteria provided
Uncertain significance
(Jun 7, 2017) 		germlinecuration

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedcuration

Details of each submission

From SingHealth Duke-NUS Institute of Precision Medicine, SCV000853148.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 10, 2023