NM_000784.4(CYP27A1):c.1A>G (p.Met1Val) AND Cholestanol storage disease

Clinical significance:Uncertain significance (Last evaluated: May 25, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000664683.1

Allele description [Variation Report for NM_000784.4(CYP27A1):c.1A>G (p.Met1Val)]

NM_000784.4(CYP27A1):c.1A>G (p.Met1Val)

Gene:
CYP27A1:cytochrome P450 family 27 subfamily A member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_000784.4(CYP27A1):c.1A>G (p.Met1Val)
HGVS:
  • NC_000002.12:g.218782183A>G
  • NG_007959.1:g.5435A>G
  • NM_000784.4:c.1A>GMANE SELECT
  • NP_000775.1:p.Met1Val
  • NC_000002.11:g.219646906A>G
  • NM_000784.3:c.1A>G
Protein change:
M1V
Links:
dbSNP: rs1446633660
NCBI 1000 Genomes Browser:
rs1446633660
Molecular consequence:
  • NM_000784.4:c.1A>G - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_000784.4:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cholestanol storage disease (CTX)
Synonyms:
Cerebral cholesterinosis; Cerebrotendinous Xanthomatosis
Identifiers:
MONDO: MONDO:0008948; MedGen: C0238052; Orphanet: 909; OMIM: 213700

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000788684Counsylcriteria provided, single submitter
Uncertain significance
(May 25, 2018)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000788684.1

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

Last Updated: Apr 17, 2020

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