chr10:90694822:C>T Detail (hg19) (ACTA2, STAMBPL1, ACTA2-AS1)

Information

Genome

Assembly Position
hg19 chr10:90,694,822-90,694,822
hg38 chr10:88,935,065-88,935,065 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000713597.1:c.*158G>A
Type Transcript Protein
RefSeq
Ensemble ENST00000371927.7:c.1254+12629C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 102620 OMIM
HGNC 130 HGNC
Ensembl ENSG00000107796 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv40123502 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 612352 OMIM
HGNC 24105 HGNC
Ensembl ENSG00000138134 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv40123502 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2016-06-14 criteria provided, single submitter Familial thoracic aortic aneurysm and aortic dissection germline Detail
Likely benign 2016-06-14 criteria provided, single submitter Multisystemic smooth muscle dysfunction syndrome germline Detail
Likely benign 2016-06-14 criteria provided, single submitter Moyamoya disease germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NR_125373.1(ACTA2-AS1):n.690C>T AND Familial thoracic aortic aneurysm and aortic dissection ClinVar Detail
NR_125373.1(ACTA2-AS1):n.690C>T AND Multisystemic smooth muscle dysfunction syndrome ClinVar Detail
NR_125373.1(ACTA2-AS1):n.690C>T AND Moyamoya disease ClinVar 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
rs367977687 dbSNP
Genome
hg19
Position
chr10:90,694,822-90,694,822
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))
rs367977687
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser