NM_014762.4(DHCR24):c.*2514A>G AND Desmosterolosis

Clinical significance:Uncertain significance (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000263997.1

Allele description [Variation Report for NM_014762.4(DHCR24):c.*2514A>G]

NM_014762.4(DHCR24):c.*2514A>G

Gene:
DHCR24:24-dehydrocholesterol reductase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p32.3
Genomic location:
Preferred name:
NM_014762.4(DHCR24):c.*2514A>G
HGVS:
  • NC_000001.11:g.54849719T>C
  • NG_008839.1:g.42530A>G
  • NM_014762.4:c.*2514A>G
  • NC_000001.10:g.55315392T>C
  • NM_014762.3:c.*2514A>G
Links:
dbSNP: rs532882730
NCBI 1000 Genomes Browser:
rs532882730
Molecular consequence:
  • NM_014762.3:c.*2514A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Desmosterolosis
Identifiers:
MedGen: C1865596; Orphanet: 35107; OMIM: 602398

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000358113Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000358113.2

#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: Jun 17, 2019

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