m.14325T>C AND Leber's optic atrophy

Clinical significance:Pathogenic (Last evaluated: Sep 19, 2013)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000055700.1

Allele description

m.14325T>C

Gene:
MT-ND6:mitochondrially encoded NADH dehydrogenase 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
m.14325T>C
HGVS:
  • NC_012920.1:m.14325T>C
  • AC_000021.2:m.14325T>C
Links:
dbSNP: rs397515505
NCBI 1000 Genomes Browser:
rs397515505

Condition(s)

Name:
Leber's optic atrophy (LHON)
Synonyms:
Optic Atrophy, Hereditary, Leber; Leber optic atrophy features; Leber optic degeneration; See all synonyms [MedGen]
Identifiers:
MedGen: C0917796; Orphanet: 104; OMIM: 535000; Human Phenotype Ontology: HP:0001112

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000086621GeneReviewsno assertion criteria providedpathologic
(Sep 19, 2013)
not providedcuration

Summary from all submissions

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

Details of each submission

From GeneReviews, SCV000086621.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Aug 24, 2018