NM_001002755.2(NFU1):c.544C>T (p.Arg182Trp) AND Multiple mitochondrial dysfunctions syndrome 1

Clinical significance:Pathogenic (Last evaluated: Dec 7, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000578338.1

Allele description [Variation Report for NM_001002755.2(NFU1):c.544C>T (p.Arg182Trp)]

NM_001002755.2(NFU1):c.544C>T (p.Arg182Trp)

Gene:
NFU1:NFU1 iron-sulfur cluster scaffold [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p13.3
Genomic location:
Preferred name:
NM_001002755.2(NFU1):c.544C>T (p.Arg182Trp)
HGVS:
  • NC_000002.12:g.69406023G>A
  • NG_031931.1:g.36606C>T
  • NM_001002755.2:c.544C>T
  • NP_001002755.1:p.Arg182Trp
  • NC_000002.11:g.69633155G>A
Protein change:
R182W
Links:
dbSNP: rs1354126704
NCBI 1000 Genomes Browser:
rs1354126704
Molecular consequence:
  • NM_001002755.2:c.544C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Multiple mitochondrial dysfunctions syndrome 1 (MMDS1)
Identifiers:
MedGen: C3276432; Orphanet: 401869; OMIM: 605711

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000680318Institute of Human Genetics,Klinikum rechts der Isarcriteria provided, single submitter
Pathogenic
(Dec 7, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Institute of Human Genetics,Klinikum rechts der Isar, SCV000680318.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1bloodnot provided1not providednot providednot provided

Last Updated: Mar 30, 2019

Support Center