NM_004453.3(ETFDH):c.92C>T (p.Thr31Ile) AND not specified

Clinical significance:Benign (Last evaluated: Jul 25, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000081080.4

Allele description [Variation Report for NM_004453.3(ETFDH):c.92C>T (p.Thr31Ile)]

NM_004453.3(ETFDH):c.92C>T (p.Thr31Ile)

Gene:
ETFDH:electron transfer flavoprotein dehydrogenase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q32.1
Genomic location:
Preferred name:
NM_004453.3(ETFDH):c.92C>T (p.Thr31Ile)
HGVS:
  • NC_000004.12:g.158680524C>T
  • NG_007078.2:g.13183C>T
  • NM_001281737.1:c.35-1671C>T
  • NM_001281738.1:c.-1679C>T
  • NM_004453.3:c.92C>T
  • NP_004444.2:p.Thr31Ile
  • NC_000004.11:g.159601676C>T
  • NM_004453.2:c.92C>T
  • Q16134:p.Thr31Ile
Protein change:
T31I
Links:
UniProtKB: Q16134#VAR_062966; dbSNP: rs11559290
NCBI 1000 Genomes Browser:
rs11559290
Molecular consequence:
  • NM_001281738.1:c.-1679C>T - 2KB upstream variant - [Sequence Ontology: SO:0001636]
  • NM_001281737.1:c.35-1671C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004453.3:c.92C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
54

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000112988EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Jul 25, 2013)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown54not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000112988.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided54not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided54not providednot providednot provided

Last Updated: Mar 30, 2019

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