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DNA2, VAL723ILE

Variation ID: Help
41479
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Feb 7, 2013
Number of submission(s):
1
Condition(s):
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

DNA2, VAL723ILE

Allele ID:
49918
Variant type:
single nucleotide variant
Cytogenetic location:
10q21.3-q22.1
Protein change:
V723I
Links:
OMIM: 601810.0003

1 Affected gene

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Feb 7, 2013)
no assertion criteria providedliterature only
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6[MedGen | Orphanet | OMIM]
germlineOMIMSCV000058348.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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