NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Mar 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000507685.2

Allele description [Variation Report for NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp)]

NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp)

Gene:
ABCD1:ATP binding cassette subfamily D member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp)
HGVS:
  • NC_000023.11:g.153726089C>T
  • NG_009022.2:g.6222C>T
  • NG_023231.1:g.3658G>A
  • NM_000033.4:c.823C>TMANE SELECT
  • NP_000024.2:p.Arg275Trp
  • LRG_1017t1:c.823C>T
  • LRG_1017:g.6222C>T
  • LRG_1017p1:p.Arg275Trp
  • NC_000023.10:g.152991544C>T
  • NM_000033.3:c.823C>T
Protein change:
R275W
Links:
dbSNP: rs782083931
NCBI 1000 Genomes Browser:
rs782083931
Molecular consequence:
  • NM_000033.4:c.823C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000602346ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Mar 27, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000602346.1

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

Last Updated: Nov 27, 2021

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