chr12:131360715:A>C Detail (hg19) (RAN)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr12:131,360,715-131,360,715
hg38	chr12:130,876,170-130,876,170 View the variant detail on this assembly version.

HGVS

RAN

Type	Transcript	Protein
RefSeq	NM_006325.4:c.*244A>C
Ensemble	ENST00000392369.6:c.*244A>C
	ENST00000541679.7:c.*291A>C
	ENST00000543796.6:c.*244A>C
	ENST00000541630.5:c.*244A>C

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

RAN

Type	Database	ID	Link
Gene	MIM	601179	OMIM
	HGNC	9846	HGNC
	Ensembl	ENSG00000132341	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	hepatitis B	We observed that DICER1 rs1057035 CT/CC variant genotypes were associated with a...	BeFree	23868705	Detail
<0.001	liver carcinoma	These findings indicated that DICER1 rs1057035, RAN rs3803012, and PIWIL1 rs1077...	BeFree	23868705	Detail
<0.001	liver carcinoma	These findings indicated that DICER1 rs1057035, RAN rs3803012, and PIWIL1 rs1077...	BeFree	23868705	Detail
<0.001	Persistent infection	We observed that DICER1 rs1057035 CT/CC variant genotypes were associated with a...	BeFree	23868705	Detail
<0.001	hepatitis B	These findings indicated that DICER1 rs1057035, RAN rs3803012, and PIWIL1 rs1077...	BeFree	23868705	Detail
<0.001	Cancer of Head and Neck	To test this hypothesis, we genotyped three SNPs at miRNA binding sites of miRNA...	BeFree	23071822	Detail
<0.001	liver carcinoma	We observed that DICER1 rs1057035 CT/CC variant genotypes were associated with a...	BeFree	23868705	Detail
<0.001	hepatitis B	These findings indicated that DICER1 rs1057035, RAN rs3803012, and PIWIL1 rs1077...	BeFree	23868705	Detail
<0.001	Persistent infection	We observed that DICER1 rs1057035 CT/CC variant genotypes were associated with a...	BeFree	23868705	Detail

Annotation

Annotations

Descrption	Source	Links
We observed that DICER1 rs1057035 CT/CC variant genotypes were associated with a significant decreas...	DisGeNET	Detail
These findings indicated that DICER1 rs1057035, RAN rs3803012, and PIWIL1 rs10773771 might contribut...	DisGeNET	Detail
These findings indicated that DICER1 rs1057035, RAN rs3803012, and PIWIL1 rs10773771 might contribut...	DisGeNET	Detail
We observed that DICER1 rs1057035 CT/CC variant genotypes were associated with a significant decreas...	DisGeNET	Detail
These findings indicated that DICER1 rs1057035, RAN rs3803012, and PIWIL1 rs10773771 might contribut...	DisGeNET	Detail
To test this hypothesis, we genotyped three SNPs at miRNA binding sites of miRNA processing genes (r...	DisGeNET	Detail
We observed that DICER1 rs1057035 CT/CC variant genotypes were associated with a significant decreas...	DisGeNET	Detail
These findings indicated that DICER1 rs1057035, RAN rs3803012, and PIWIL1 rs10773771 might contribut...	DisGeNET	Detail
We observed that DICER1 rs1057035 CT/CC variant genotypes were associated with a significant decreas...	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs3803012 dbSNP
Genome: hg19
Position: chr12:131,360,715-131,360,715
Variant Type: snv
Reference Allele: A
Alternative Allele: C

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