chr12:66298031:C>T Detail (hg19) (HMGA2)

Information

Genome

Assembly Position
hg19 chr12:66,298,031-66,298,031
hg38 chr12:65,904,251-65,904,251 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001300918.1:c.250-47132C>T
NM_001300919.1:c.250-10469C>T
NM_003484.1:c.250-10808C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.290
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 600698 OMIM
HGNC 5009 HGNC
Ensembl ENSG00000149948 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv46255493 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 glioblastoma We identified LIG4 rs7325927 and BTBD2 rs11670188 as predictors of STS in GBM an... BeFree 20368557 Detail
Annotation

Annotations

DescrptionSourceLinks
We identified LIG4 rs7325927 and BTBD2 rs11670188 as predictors of STS in GBM and CCDC26 rs10464870 ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1563834 dbSNP
Genome
hg19
Position
chr12:66,298,031-66,298,031
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs1563834
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.29
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4861
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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