Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NR_040073.1(MIR181A1HG):n.363+26A>G

Help
Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: May 10, 2017)
Accession:
VCV000427756.1
Variation ID:
427756
Description:
single nucleotide variant
Help

NR_040073.1(MIR181A1HG):n.363+26A>G

Allele ID
417645
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q32.1
Genomic location
1: 198900385 (GRCh38) GRCh38 UCSC
1: 198869514 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.198869514T>C
NC_000001.11:g.198900385T>C
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:198900384:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.17991 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.73583
1000 Genomes Project 0.82009
Trans-Omics for Precision Medicine (TOPMed) 0.74168
Links
ClinGen: CA10854753
dbSNP: rs10800598
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided - RCV000509077.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MIR181A1HG - - - GRCh38 4 9

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(-)
no assertion criteria provided
Method: case-control
Acute myeloid leukemia with maturation
Allele origin: germline
Fujian Institute of Hematology,Fujian Medical University
Accession: SCV000577913.1
Submitted: (May 10, 2017)
Evidence details
Publications
PubMed (1)
Comment:
This variant contributes to development of AML-M2

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
Title Author Journal Year Link
Lentivirus-mediated RNA interference targeting <i>FAMLF-1</i> inhibits cell growth and enhances cell differentiation of acute myeloid leukemia partially differentiated cells via inhibition of AKT and c-MYC. Huang YM Oncotarget 2017 PMID: 29254171

Text-mined citations for rs10800598...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021