NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg) AND not provided

Clinical significance:Pathogenic (Last evaluated: Oct 13, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000724095.1

Allele description [Variation Report for NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg)]

NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg)

Gene:
DHCR7:7-dehydrocholesterol reductase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.4
Genomic location:
Preferred name:
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg)
HGVS:
  • NC_000011.10:g.71437868C>T
  • NG_012655.2:g.15564G>A
  • NM_001163817.2:c.907G>A
  • NM_001360.3:c.907G>AMANE SELECT
  • NP_001157289.1:p.Gly303Arg
  • NP_001351.2:p.Gly303Arg
  • NP_001351.2:p.Gly303Arg
  • LRG_340t1:c.907G>A
  • LRG_340:g.15564G>A
  • LRG_340p1:p.Gly303Arg
  • NC_000011.9:g.71148914C>T
  • NM_001360.2:c.907G>A
Protein change:
G303R
Links:
dbSNP: rs142808899
NCBI 1000 Genomes Browser:
rs142808899
Molecular consequence:
  • NM_001163817.2:c.907G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360.3:c.907G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000232612EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Oct 13, 2017)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown3not providednot providednot providednot providedclinical testing

Citations

PubMed

R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients.

Matsumoto Y, Morishima KI, Honda A, Watabe S, Yamamoto M, Hara M, Hasui M, Saito C, Takayanagi T, Yamanaka T, Saito N, Kudo H, Okamoto N, Tsukahara M, Matsuura S.

J Hum Genet. 2005;50(7):353-356. doi: 10.1007/s10038-005-0267-3. Epub 2005 Jul 26.

PubMed [citation]
PMID:
16044199

A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal cholestasis.

Ko JS, Choi BS, Seo JK, Shin JY, Chae JH, Kang GH, Lee R, Ki CS, Kim JW.

J Korean Med Sci. 2010 Jan;25(1):159-62. doi: 10.3346/jkms.2010.25.1.159. Epub 2009 Dec 26.

PubMed [citation]
PMID:
20052364
PMCID:
PMC2799999

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000232612.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

Last Updated: Dec 4, 2021

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