chr14:95553362:A>G Detail (hg19) (DICER1)

Information

Genome

Assembly Position
hg19 chr14:95,553,362-95,553,362
hg38 chr14:95,087,025-95,087,025 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001291628.1:c.*3473T>C
NM_030621.4:c.*3473T>C
NM_177438.2:c.*3473T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.467
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 606241 OMIM
HGNC 17098 HGNC
Ensembl ENSG00000100697 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv51810446 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-01-12 criteria provided, single submitter DICER1-related tumor predisposition germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 T-Cell Lymphoma Among the 13 SNPs, four (DROSHA rs6877842, DICER rs3742330, mir149 rs2292832, an... BeFree 24563077 Detail
<0.001 T-Cell Lymphoma Among the 13 SNPs, four (DROSHA rs6877842, DICER rs3742330, mir149 rs2292832, an... BeFree 24563077 Detail
<0.001 T-Cell Lymphoma Furthermore, we observed cumulative effects of Dicer rs3742330 and BAFF rs951482... BeFree 23251602 Detail
<0.001 Turner syndrome A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... BeFree 23549446 Detail
<0.001 Turner syndrome A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... BeFree 23549446 Detail
<0.001 Ovarian Failure, Premature A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... BeFree 23549446 Detail
<0.001 Turner syndrome A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... BeFree 23549446 Detail
0.003 Ovarian Failure, Premature A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... BeFree 23549446 Detail
<0.001 Turner syndrome A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... BeFree 23549446 Detail
<0.001 Ovarian Failure, Premature A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... BeFree 23549446 Detail
<0.001 Ovarian Failure, Premature A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... BeFree 23549446 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_177438.3(DICER1):c.*3473T>C AND DICER1-related tumor predisposition ClinVar Detail
Among the 13 SNPs, four (DROSHA rs6877842, DICER rs3742330, mir149 rs2292832, and mir499 rs3746444) ... DisGeNET Detail
Among the 13 SNPs, four (DROSHA rs6877842, DICER rs3742330, mir149 rs2292832, and mir499 rs3746444) ... DisGeNET Detail
Furthermore, we observed cumulative effects of Dicer rs3742330 and BAFF rs9514828 on TCL survival. DisGeNET Detail
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... DisGeNET Detail
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... DisGeNET Detail
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... DisGeNET Detail
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... DisGeNET Detail
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... DisGeNET Detail
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... DisGeNET Detail
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... DisGeNET Detail
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... 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
rs3742330 dbSNP
Genome
hg19
Position
chr14:95,553,362-95,553,362
Variant Type
snv
Reference Allele
A
Alternative Allele
G
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs3742330
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4674
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7834
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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