NM_022336.3(EDAR):c.265C>T (p.Arg89Cys) AND multiple conditions

Clinical significance:Likely pathogenic (Last evaluated: Oct 9, 2016)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000681479.1

Allele description [Variation Report for NM_022336.3(EDAR):c.265C>T (p.Arg89Cys)]

NM_022336.3(EDAR):c.265C>T (p.Arg89Cys)

Genes:
RANBP2:RAN binding protein 2 [Gene - OMIM - HGNC]
EDAR:ectodysplasin A receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q13
Genomic location:
Preferred name:
NM_022336.3(EDAR):c.265C>T (p.Arg89Cys)
HGVS:
  • NC_000002.12:g.108929289G>A
  • NG_008257.1:g.65084C>T
  • NM_022336.3:c.265C>T
  • NP_071731.1:p.Arg89Cys
  • NC_000002.11:g.109545745G>A
  • NM_022336.2:c.265C>T
Protein change:
R89C
Molecular consequence:
  • NM_022336.3:c.265C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Progressive sclerosing poliodystrophy (MTDPS4A)
Synonyms:
Alpers Syndrome; Mitochondrial DNA depletion syndrome 4A (Alpers type); Alpers-Huttenlocher Syndrome
Identifiers:
MedGen: C0205710; Orphanet: 726; OMIM: 203700
Name:
Mitochondrial DNA depletion syndrome 4B, MNGIE type (MTDPS4B)
Synonyms:
MNGIE, POLG-RELATED; Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related
Identifiers:
MedGen: C3150914; Orphanet: 298; OMIM: 613662

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000808929Hehr Laboratory,Center for Human Genetics - University of Regensburgno assertion criteria providedLikely pathogenic
(Oct 9, 2016)
unknownclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Hehr Laboratory,Center for Human Genetics - University of Regensburg, SCV000808929.1

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

Last Updated: Mar 30, 2019

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