NM_001360.2(DHCR7):c.955A>G (p.Thr319Ala) AND Smith-Lemli-Opitz syndrome

Clinical significance:Uncertain significance (Last evaluated: May 4, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000674430.1

Allele description [Variation Report for NM_001360.2(DHCR7):c.955A>G (p.Thr319Ala)]

NM_001360.2(DHCR7):c.955A>G (p.Thr319Ala)

Gene:
DHCR7:7-dehydrocholesterol reductase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.4
Genomic location:
Preferred name:
NM_001360.2(DHCR7):c.955A>G (p.Thr319Ala)
HGVS:
  • NC_000011.10:g.71437820T>C
  • NG_012655.2:g.15612A>G
  • NM_001163817.2:c.955A>G
  • NM_001360.2:c.955A>G
  • NP_001157289.1:p.Thr319Ala
  • NP_001351.2:p.Thr319Ala
  • LRG_340t1:c.955A>G
  • LRG_340:g.15612A>G
  • LRG_340p1:p.Thr319Ala
  • NC_000011.9:g.71148866T>C
Protein change:
T319A
Links:
dbSNP: rs1362583959
NCBI 1000 Genomes Browser:
rs1362583959
Molecular consequence:
  • NM_001163817.2:c.955A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360.2:c.955A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Smith-Lemli-Opitz syndrome (SLOS)
Synonyms:
LETHAL ACRODYSGENITAL SYNDROME; POLYDACTYLY, SEX REVERSAL, RENAL HYPOPLASIA, AND UNILOBAR LUNG; RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010035; MedGen: C0175694; Orphanet: 818; OMIM: 270400

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000799766Counsylcriteria provided, single submitter
Uncertain significance
(May 4, 2018)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

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

Citations

PubMed

DHCR7 and Smith-Lemli-Opitz syndrome.

Nowaczyk MJ, Nakamura LM, Waye JS.

Clin Invest Med. 2001 Dec;24(6):311-7. Review. No abstract available.

PubMed [citation]
PMID:
11767235

Details of each submission

From Counsyl, SCV000799766.1

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

Last Updated: Oct 7, 2021

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