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NM_001818.5(AKR1C4):c.447+9T>G AND Hypotension

Germline classification:
not provided (1 submission)
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:
RCV000119258.1

Allele description [Variation Report for NM_001818.5(AKR1C4):c.447+9T>G]

NM_001818.5(AKR1C4):c.447+9T>G

Gene:
AKR1C4:aldo-keto reductase family 1 member C4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10p15.1
Genomic location:
Preferred name:
NM_001818.5(AKR1C4):c.447+9T>G
HGVS:
  • NC_000010.11:g.5205843T>G
  • NG_031872.1:g.14009T>G
  • NM_001818.5:c.447+9T>GMANE SELECT
  • NC_000010.10:g.5247806T>G
  • NM_001818.3:c.447+9T>G
Links:
dbSNP: rs201441444
NCBI 1000 Genomes Browser:
rs201441444
Molecular consequence:
  • NM_001818.5:c.447+9T>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Hypotension
Synonyms:
Hypotensive disorder
Identifiers:
MONDO: MONDO:0005468; MedGen: C0020649; Human Phenotype Ontology: HP:0002615

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000154110Centre for molecular medicine, Karolinska Institutet
no classification provided
not providednot providednot provided

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Centre for molecular medicine, Karolinska Institutet, SCV000154110.1

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

Last Updated: Sep 29, 2024