NM_000196.4(HSD11B2):c.956_964dup (p.Val322_Asp323insAlaProVal) AND Apparent mineralocorticoid excess

Clinical significance:Uncertain significance (Last evaluated: Dec 30, 2017)

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:
RCV000761443.1

Allele description [Variation Report for NM_000196.4(HSD11B2):c.956_964dup (p.Val322_Asp323insAlaProVal)]

NM_000196.4(HSD11B2):c.956_964dup (p.Val322_Asp323insAlaProVal)

Gene:
HSD11B2:hydroxysteroid 11-beta dehydrogenase 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
16q22.1
Genomic location:
Preferred name:
NM_000196.4(HSD11B2):c.956_964dup (p.Val322_Asp323insAlaProVal)
HGVS:
  • NC_000016.10:g.67436741_67436749dup
  • NG_011482.1:g.49438_49446dup
  • NG_016549.1:g.10609_10617dup
  • NM_000196.4:c.956_964dupMANE SELECT
  • NP_000187.3:p.Val322_Asp323insAlaProVal
  • NC_000016.9:g.67470644_67470652dup
  • NM_000196.3:c.956_964dup
Links:
dbSNP: rs1567530910
NCBI 1000 Genomes Browser:
rs1567530910
Molecular consequence:
  • NM_000196.4:c.956_964dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:
Apparent mineralocorticoid excess (AME)
Synonyms:
Cortisol 11-beta-ketoreductase deficiency; AME 1
Identifiers:
MONDO: MONDO:0009025; MedGen: C3887949; Orphanet: 320; OMIM: 218030

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000891525Department of Genetics,Sultan Qaboos University Hospital, Omanno assertion criteria providedUncertain significance
(Dec 30, 2017)
unknowncuration

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Molecular basis for the apparent mineralocorticoid excess syndrome in the Oman population.

Quinkler M, Bappal B, Draper N, Atterbury AJ, Lavery GG, Walker EA, DeSilva V, Taylor NF, Hala S, Rajendra N, Stewart PM.

Mol Cell Endocrinol. 2004 Mar 31;217(1-2):143-9.

PubMed [citation]
PMID:
15134813

Details of each submission

From Department of Genetics,Sultan Qaboos University Hospital, Oman, SCV000891525.1

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

Last Updated: Nov 27, 2021

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