NC_012920.1:m.3460G>A

Variation ID: Help
9722
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Apr 17, 2014
Number of submission(s):
4
Condition(s):
See supporting ClinVar records

Allele(s) Help

NC_012920.1:m.3460G>A

Allele ID:
24761
Variant type:
single nucleotide variant
Genomic location:
  • ChrMT: 3460 (on Assembly GRCh38)
  • ChrMT: 3460 (on Assembly GRCh37)
HGVS:
  • NC_012920.1:m.3460G>A (GRCh38)
  • AC_000021.2:m.3460G>A
Links:
NCBI 1000 Genomes Browser:
rs199476118

1 Affected gene

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Jul 10, 2007)
no assertion criteria providedliterature onlygermlineOMIMSCV000030596.1
Pathogenic
(Jul 10, 2007)
no assertion criteria providedliterature only
  • Mitochondrial complex I deficiency[MedGen | OMIM]
germlineOMIMSCV000030597.1
Pathogenic
(Sep 19, 2013)
no assertion criteria providedliterature onlygermline, not providedGeneReviewsSCV000086632.1
Pathogenic
(Apr 17, 2014)
no assertion criteria providedliterature onlygermline, not providedGeneReviewsSCV000188884.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot providednot providedgermline, not providednot providednot provided
GeneReviewsnot providednot providedgermline, not providednot providednot providedConverted during submission to…Full description
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 14, 2017