chr10:88947371:T>C Detail (hg38) (ACTA2, STAMBPL1)

Information

Genome

Assembly Position
hg19 chr10:90,707,128-90,707,128 View the variant detail on this assembly version.
hg38 chr10:88,947,371-88,947,371

HGVS

Type Transcript Protein
RefSeq NM_001141945.2:c.145A>G NP_001135417.1:p.Met49Val
NM_001320855.1:c.145A>G NP_001307784.1:p.Met49Val
NM_001613.2:c.145A>G NP_001604.1:p.Met49Val
Type Transcript Protein
RefSeq
Ensemble ENST00000371927.7:c.1254+24935T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
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
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2011-05-01 no assertion criteria provided Aortic aneurysm, familial thoracic 6 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Aortic aneurysm, familial thoracic 6 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001613.4(ACTA2):c.145A>G (p.Met49Val) AND Aortic aneurysm, familial thoracic 6 ClinVar Detail
NA 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
rs397515325 dbSNP
Genome
hg38
Position
chr10:88,947,371-88,947,371
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser