chr12:52309267:G>A Detail (hg19) (ACVRL1)

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

Genome

Assembly	Position
hg19	chr12:52,309,267-52,309,267
hg38	chr12:51,915,483-51,915,483 View the variant detail on this assembly version.

HGVS

ACVRL1

Type	Transcript	Protein
RefSeq	NM_001077401.1:c.1073G>A	NP_001070869.1:p.Cys358Tyr
	NM_000020.2:c.1031G>A	NP_000011.2:p.Cys344Tyr
Ensemble	ENST00000419526.6:c.509G>A	ENST00000419526.6:p.Cys170Tyr
	ENST00000550683.5:c.1073G>A	ENST00000550683.5:p.Cys358Tyr
	ENST00000388922.9:c.1031G>A	ENST00000388922.9:p.Cys344Tyr
	ENST00000551576.6:c.1031G>A	ENST00000551576.6:p.Cys344Tyr
	ENST00000552678.2:c.1031G>A	ENST00000552678.2:p.Cys344Tyr
	ENST00000547400.6:c.761G>A	ENST00000547400.6:p.Cys254Tyr
	ENST00000713619.1:c.926G>A	ENST00000713619.1:p.Cys309Tyr

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

ACVRL1

Type	Database	ID	Link
Gene	MIM	601284	OMIM
	HGNC	175	HGNC
	Ensembl	ENSG00000139567	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	2024-01-04	criteria provided, multiple submitters, no conflicts	Telangiectasia, hereditary hemorrhagic, type 2	germline	Detail
Pathogenic	2003-12-01	no assertion criteria provided	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia	germline	Detail
Pathogenic	2023-06-13	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2020-06-08	criteria provided, single submitter		unknown	Detail
Pathogenic	2021-10-01	criteria provided, single submitter		germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.440	OSLER-RENDU-WEBER SYNDROME 2	NA	CLINVAR		Detail
0.120	HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION	NA	CLINVAR		Detail
0.440	OSLER-RENDU-WEBER SYNDROME 2	Molecular and functional analysis identifies ALK-1 as the predominant cause of p...	UNIPROT	14684682	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr) AND Telangiectasia, hereditary hemorrhagic, type 2	ClinVar	Detail
NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr) AND Pulmonary arterial hypertension related to hereditar...	ClinVar	Detail
NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr) AND not provided	ClinVar	Detail
NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr) AND See cases	ClinVar	Detail
NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr) AND Cardiovascular phenotype	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertensio...	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: rs28936688 dbSNP
Genome: hg19
Position: chr12:52,309,267-52,309,267
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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