U.S. flag

An official website of the United States government

NM_024417.5(FDXR):c.463C>T (p.Arg155Trp) AND Inborn genetic diseases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 16, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001267472.2

Allele description [Variation Report for NM_024417.5(FDXR):c.463C>T (p.Arg155Trp)]

NM_024417.5(FDXR):c.463C>T (p.Arg155Trp)

Gene:
FDXR:ferredoxin reductase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.1
Genomic location:
Preferred name:
NM_024417.5(FDXR):c.463C>T (p.Arg155Trp)
HGVS:
  • NC_000017.11:g.74866175G>A
  • NM_001258012.4:c.592C>T
  • NM_001258013.4:c.556C>T
  • NM_001258014.4:c.439C>T
  • NM_001258015.3:c.343C>T
  • NM_001258016.3:c.307C>T
  • NM_004110.6:c.463C>T
  • NM_024417.5:c.463C>TMANE SELECT
  • NP_001244941.2:p.Arg198Trp
  • NP_001244942.2:p.Arg186Trp
  • NP_001244943.2:p.Arg147Trp
  • NP_001244944.1:p.Arg115Trp
  • NP_001244945.2:p.Arg103Trp
  • NP_004101.3:p.Arg155Trp
  • NP_077728.3:p.Arg155Trp
  • NC_000017.10:g.72862297G>A
  • NM_004110.3:c.463C>T
  • NM_024417.4:c.463C>T
  • NR_047576.3:n.613C>T
Protein change:
R103W; ARG155TRP
Links:
OMIM: 103270.0008; dbSNP: rs752675360
NCBI 1000 Genomes Browser:
rs752675360
Molecular consequence:
  • NM_001258012.4:c.592C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258013.4:c.556C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258014.4:c.439C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258015.3:c.343C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258016.3:c.307C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004110.6:c.463C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024417.5:c.463C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_047576.3:n.613C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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
SCV001445653Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))
Likely pathogenic
(Aug 16, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasiangermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV001445653.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Sep 16, 2024