NM_000784.4(CYP27A1):c.792G>A (p.Val264=) AND not specified

Clinical significance:Benign (Last evaluated: Mar 25, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000284553.1

Allele description [Variation Report for NM_000784.4(CYP27A1):c.792G>A (p.Val264=)]

NM_000784.4(CYP27A1):c.792G>A (p.Val264=)

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.792G>A (p.Val264=)
HGVS:
  • NC_000002.12:g.218812697G>A
  • NG_007959.1:g.35949G>A
  • NM_000784.4:c.792G>AMANE SELECT
  • NP_000775.1:p.Val264=
  • NC_000002.11:g.219677420G>A
  • NM_000784.3:c.792G>A
Links:
dbSNP: rs144018609
NCBI 1000 Genomes Browser:
rs144018609
Molecular consequence:
  • NM_000784.4:c.792G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000340909EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Mar 25, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000340909.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 14, 2021

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