chr10:5141137:A>G Detail (hg19) (AKR1C3)

Information

Genome

Assembly Position
hg19 chr10:5,141,137-5,141,137
hg38 chr10:5,098,945-5,098,945 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001253908.1:c.447+66A>G
NM_003739.5:c.447+66A>G
Ensemble ENST00000439082.7:c.447+66A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.766
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 603966 OMIM
HGNC 386 HGNC
Ensembl ENSG00000196139 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv38217903 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 childhood leukemia The maternal methylenetetrahydrofolate reductase A1298C polymorphism was found t... BeFree 18339682 Detail
Annotation

Annotations

DescrptionSourceLinks
The maternal methylenetetrahydrofolate reductase A1298C polymorphism was found to be an effect modif... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs10508293 dbSNP
Genome
hg19
Position
chr10:5,141,137-5,141,137
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))
rs10508293
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7659
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12837
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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