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NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu) AND Congenital adrenal hyperplasia

Germline classification:
not provided (1 submission)
Last evaluated:
Oct 2, 2015
Review status:
no classification 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:
RCV000029646.2

Allele description [Variation Report for NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu)]

NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu)

Gene:
CYP11B1:cytochrome P450 family 11 subfamily B member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu)
HGVS:
  • NC_000008.11:g.142879146G>A
  • NG_007954.1:g.5675C>T
  • NM_000497.4:c.281C>TMANE SELECT
  • NM_001026213.1:c.281C>T
  • NP_000488.3:p.Pro94Leu
  • NP_000488.3:p.Pro94Leu
  • NP_001021384.1:p.Pro94Leu
  • NC_000008.10:g.143960562G>A
  • NM_000497.3:c.281C>T
  • P15538:p.Pro94Leu
  • p.PRO94LEU
Protein change:
P94L; PRO94LEU
Links:
UniProtKB: P15538#VAR_065666; OMIM: 610613.0016; dbSNP: rs104894070
NCBI 1000 Genomes Browser:
rs104894070
Molecular consequence:
  • NM_000497.4:c.281C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001026213.1:c.281C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital adrenal hyperplasia (CAH)
Identifiers:
MONDO: MONDO:0018479; MedGen: C0001627; Human Phenotype Ontology: HP:0008258

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000052298Women's Health and Genetics/Laboratory Corporation of America, LabCorp
no classification provided
not providedgermlineclinical testing

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000052298.2

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

Last Updated: Jun 17, 2024