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NM_000784.4(CYP27A1):c.1202C>G (p.Pro401Arg) AND Cholestanol storage disease

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 1, 2013
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000056076.2

Allele description [Variation Report for NM_000784.4(CYP27A1):c.1202C>G (p.Pro401Arg)]

NM_000784.4(CYP27A1):c.1202C>G (p.Pro401Arg)

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.1202C>G (p.Pro401Arg)
HGVS:
  • NC_000002.12:g.218814397C>G
  • NG_007959.1:g.37649C>G
  • NM_000784.4:c.1202C>GMANE SELECT
  • NP_000775.1:p.Pro401Arg
  • NC_000002.11:g.219679120C>G
  • NM_000784.3:c.1202C>G
Nucleotide change:
c.1202C>G
Protein change:
P401R
Links:
dbSNP: rs587778780
NCBI 1000 Genomes Browser:
rs587778780
Molecular consequence:
  • NM_000784.4:c.1202C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000087141GeneReviews
no assertion criteria provided
pathologic
(Aug 1, 2013) 		not providedcuration

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Details of each submission

From GeneReviews, SCV000087141.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Jan 15, 2023