NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys) AND not provided

Clinical significance:Likely pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000171331.1

Allele description [Variation Report for NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys)]

NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys)

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.1342C>T (p.Arg448Cys)
HGVS:
  • NC_000002.12:g.218814623C>T
  • NG_007959.1:g.37875C>T
  • NM_000784.4:c.1342C>TMANE SELECT
  • NP_000775.1:p.Arg448Cys
  • NC_000002.11:g.219679346C>T
  • NM_000784.3:c.1342C>T
Protein change:
R448C
Links:
dbSNP: rs730882199
NCBI 1000 Genomes Browser:
rs730882199
Molecular consequence:
  • NM_000784.4:c.1342C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000221528Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centreno assertion criteria provided
Likely pathogenicgermlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre, SCV000221528.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 2, 2019

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