chr10:88948816:G>C Detail (hg38) (ACTA2, STAMBPL1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr10:90,708,573-90,708,573 View the variant detail on this assembly version.
hg38	chr10:88,948,816-88,948,816

HGVS

ACTA2
STAMBPL1

Type	Transcript	Protein
RefSeq	NM_001141945.2:c.115C>G	NP_001135417.1:p.Arg39Gly
	NM_001320855.1:c.115C>G	NP_001307784.1:p.Arg39Gly
	NM_001613.2:c.115C>G	NP_001604.1:p.Arg39Gly
Ensemble	ENST00000224784.10:c.115C>G	ENST00000224784.10:p.Arg39Gly
	ENST00000415557.2:c.115C>G	ENST00000415557.2:p.Arg39Gly
	ENST00000458159.6:c.115C>G	ENST00000458159.6:p.Arg39Gly
	ENST00000713597.1:c.115C>G	ENST00000713597.1:p.Arg39Gly
	ENST00000713598.1:c.115C>G	ENST00000713598.1:p.Arg39Gly
	ENST00000713599.1:c.115C>G	ENST00000713599.1:p.Arg39Gly
	ENST00000713600.1:c.115C>G	ENST00000713600.1:p.Arg39Gly
	ENST00000713601.1:c.115C>G	ENST00000713601.1:p.Arg39Gly
	ENST00000713602.1:c.115C>G	ENST00000713602.1:p.Arg39Gly

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000371927.7:c.1255-24366G>C

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
Show details

Links

ACTA2
STAMBPL1

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	2023-08-28	criteria provided, single submitter	Aortic aneurysm, familial thoracic 6	germline	Detail
Likely pathogenic	2021-06-03	criteria provided, single submitter	not provided	germline	Detail
Likely pathogenic	2018-06-01	criteria provided, single submitter	Familial thoracic aortic aneurysm and aortic dissection	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

Descrption	Source	Links
NM_001613.4(ACTA2):c.115C>G (p.Arg39Gly) AND Aortic aneurysm, familial thoracic 6	ClinVar	Detail
NM_001613.4(ACTA2):c.115C>G (p.Arg39Gly) AND not provided	ClinVar	Detail
NM_001613.4(ACTA2):c.115C>G (p.Arg39Gly) AND Familial thoracic aortic aneurysm and aortic dissection	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: rs112901682 dbSNP
Genome: hg38
Position: chr10:88,948,816-88,948,816
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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