NR_040073.1(MIR181A1HG):n.363+1862C>A AND Acute myeloid leukemia with maturation

Clinical significance: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:
RCV000509081.1

Allele description [Variation Report for NR_040073.1(MIR181A1HG):n.363+1862C>A]

NR_040073.1(MIR181A1HG):n.363+1862C>A

Gene:
MIR181A1HG:MIR181A1 host gene [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.1
Genomic location:
Preferred name:
NR_040073.1(MIR181A1HG):n.363+1862C>A
HGVS:
  • NC_000001.11:g.198898549G>T
  • NC_000001.10:g.198867678G>T
  • NR_040073.1:n.363+1862C>A
Links:
dbSNP: rs60639710
NCBI 1000 Genomes Browser:
rs60639710

Condition(s)

Name:
Acute myeloid leukemia with maturation
Identifiers:
MedGen: C1879321

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000577911Fujian Institute of Hematology,Fujian Medical Universityno assertion criteria providedPathogenicgermlinecase-control

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Chinesegermlineyesnot providednot providednot providednot providednot providedcase-control

Citations

PubMed

Lentivirus-mediated RNA interference targeting FAMLF-1 inhibits cell growth and enhances cell differentiation of acute myeloid leukemia partially differentiated cells via inhibition of AKT and c-MYC.

Huang YM, Zheng Y, Li JG, Wang XC, Wang ZC, Chen WL, Pan LL, Li Y, Luo DF, Wang SY.

Oncotarget. 2017 Nov 24;8(60):101372-101382. doi: 10.18632/oncotarget.21276.

PubMed [citation]
PMID:
29254171
PMCID:
PMC5731881

Details of each submission

From Fujian Institute of Hematology,Fujian Medical University, SCV000577911.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Chinesenot providednot providednot providedcase-control PubMed (1)

Description

This variant contributes to development of AML-M2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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