m.8296A>G

Variation ID: Help
9584
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, 1998
Number of submission(s):
1
Condition(s):
Diabetes-deafness syndrome maternally transmitted[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

m.8296A>G

Allele ID:
24623
Variant type:
single nucleotide variant
Genomic location:
  • ChrMT: 8296 (on Assembly GRCh38)
  • ChrMT: 8296 (on Assembly GRCh37)
Other names:
  • 8296A-G
HGVS:
NC_012920.1:m.8296A>G (GRCh38)
Links:
NCBI 1000 Genomes Browser:
rs118192102

Variant frequency in dbGaP Help

m.8296A>G

GRCh37 ChrMT:8296
Called variantsPotential variants
Sample countno data7 of 14811

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

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
(Apr 17, 1998)
no assertion criteria providedliterature onlygermlineOMIMSCV000030424.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: May 22, 2017