chr12:111472415:A>G Detail (hg38) (ATXN2)

Information

Genome

Assembly Position
hg19 chr12:111,910,219-111,910,219 View the variant detail on this assembly version.
hg38 chr12:111,472,415-111,472,415

HGVS

Type Transcript Protein
RefSeq NM_001310123.1:c.2132-1673T>C
NM_001310121.1:c.2204-1673T>C
Ensemble ENST00000389153.10:c.2321-1673T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:1.000
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 601517 OMIM
HGNC 10555 HGNC
Ensembl ENSG00000204842 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv47254587 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 antiphospholipid syndrome Within this region, a TAC risk haplotype comprising one SNP in SH2B3 gene (rs318... BeFree 23844121 Detail
Annotation

Annotations

DescrptionSourceLinks
Within this region, a TAC risk haplotype comprising one SNP in SH2B3 gene (rs3184504) and two SNPs i... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs10774625 dbSNP
Genome
hg38
Position
chr12:111,472,415-111,472,415
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))
rs10774625
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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