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NM_007103.4(NDUFV1):c.491A>G (p.Asn164Ser) AND Mitochondrial complex I deficiency

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000709772.1

Allele description [Variation Report for NM_007103.4(NDUFV1):c.491A>G (p.Asn164Ser)]

NM_007103.4(NDUFV1):c.491A>G (p.Asn164Ser)

Gene:
NDUFV1:NADH:ubiquinone oxidoreductase core subunit V1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_007103.4(NDUFV1):c.491A>G (p.Asn164Ser)
HGVS:
  • NC_000011.10:g.67609616A>G
  • NG_013353.1:g.7765A>G
  • NM_001166102.2:c.464A>G
  • NM_007103.4:c.491A>GMANE SELECT
  • NP_001159574.1:p.Asn155Ser
  • NP_009034.2:p.Asn164Ser
  • NC_000011.9:g.67377087A>G
  • NM_007103.3:c.491A>G
Protein change:
N155S
Links:
dbSNP: rs1024767789
NCBI 1000 Genomes Browser:
rs1024767789
Molecular consequence:
  • NM_001166102.2:c.464A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007103.4:c.491A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mitochondrial complex I deficiency
Synonyms:
Complex 1 mitochondrial respiratory chain deficiency; NADH coenzyme Q reductase deficiency
Identifiers:
MONDO: MONDO:0100133; MedGen: C1838979; Orphanet: 2609

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000840090GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000840090.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2024