U.S. flag

An official website of the United States government

NC_012920.1:m.11984T>C AND Leigh syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 17, 2014
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:
RCV000144014.2

Allele description

NC_012920.1:m.11984T>C

Gene:
MT-ND4:mitochondrially encoded NADH dehydrogenase 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
NC_012920.1:m.11984T>C
HGVS:
  • NC_012920.1:m.11984T>C
  • NC_012920.1:m.11984T>C
  • NC_012920.1:m.11984T>C
  • NC_012920.1:m.11984T>C
  • YP_003024035.1:p.Tyr409His
  • p.Tyr409His
Protein change:
Y409H
Links:
dbSNP: rs200911567
NCBI 1000 Genomes Browser:
rs200911567

Condition(s)

Name:
Leigh syndrome (LS)
Synonyms:
Leigh Disease; Leigh's disease; Leigh's syndrome
Identifiers:
MedGen: C0023264; Orphanet: 506; OMIM: 256000

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
SCV000188906GeneReviews
no assertion criteria provided
Pathogenic
(Apr 17, 2014) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Novel mitochondrial mutation in the ND4 gene associated with Leigh syndrome.

Vanniarajan A, Rajshekher GP, Joshi MB, Reddy AG, Singh L, Thangaraj K.

Acta Neurol Scand. 2006 Nov;114(5):350-3.

PubMed [citation]
PMID:
17022785

Details of each submission

From GeneReviews, SCV000188906.2

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

Last Updated: Sep 22, 2019