NM_199074.1(NDUFAF3):c.-94-15C>G

NM_199074.1(NDUFAF3):c.-94-15C>G

Variant type:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
  • Chr3:49022331 (on Assembly GRCh38)
  • Chr3:49059764 (on Assembly GRCh37)
HGVS:
  • NG_033126.1:g.3741G>C
  • NG_016282.1:g.6857C>G
  • NM_199074.1:c.-94-15C>G
  • NM_199069.1:c.78-15C>G
  • NC_000003.12:g.49022331C>G (GRCh38)
  • NC_000003.11:g.49059764C>G (GRCh37)
Links:
dbSNP: 587781096
NCBI 1000 Genomes Browser:
rs587781096
Molecular consequence:
NM_199074.1:c.-94-15C>G: intron variant [Sequence Ontology SO:0001627]

Clinical significance

NM_199074.1(NDUFAF3):c.-94-15C>G

Clinical significance:
Benign
Review status:
(0/4)0 stars out of maximum of 4 stars
no assertion criteria provided
Number of submission(s):
1
See supporting ClinVar records

1 Affected gene

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Recent activity

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study name
(Last submitted)
Submission accession
Benign
(Apr 3, 2014)
no assertion criteria providedclinical testinggermlineGeneDx

(Jun 10, 2014)

SCV000170677
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
GeneDxnot providednot providedgermlinenot providednot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription
GeneDxgermlinenot providednot provided (unknown)not providednot providednot providedThe variant is found in MITONUC-MITOP panel(s).

Last Updated: Jul 5, 2015