chr12:52309898:T>G 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	chr12:52,309,898-52,309,898
hg38	chr12:51,916,114-51,916,114 View the variant detail on this assembly version.

HGVS

ACVRL1

Type	Transcript	Protein
RefSeq	NM_000020.2:c.1127T>G	NP_000011.2:p.Met376Arg
	NM_001077401.1:c.1169T>G	NP_001070869.1:p.Met390Arg
Ensemble	ENST00000551576.6:c.1127T>G	ENST00000551576.6:p.Met376Arg
	ENST00000388922.9:c.1127T>G	ENST00000388922.9:p.Met376Arg
	ENST00000550683.5:c.1169T>G	ENST00000550683.5:p.Met390Arg
	ENST00000419526.6:c.605T>G	ENST00000419526.6:p.Met202Arg
	ENST00000713619.1:c.1022T>G	ENST00000713619.1:p.Met341Arg
	ENST00000552678.2:c.1127T>G	ENST00000552678.2:p.Met376Arg
	ENST00000547400.6:c.857T>G	ENST00000547400.6:p.Met286Arg

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	1996-06-01	no assertion criteria provided	Telangiectasia, hereditary hemorrhagic, type 2	germline	Detail
Pathogenic	2015-12-09	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
0.440	OSLER-RENDU-WEBER SYNDROME 2	Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic ...	UNIPROT	8640225	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000020.3(ACVRL1):c.1127T>G (p.Met376Arg) AND Telangiectasia, hereditary hemorrhagic, type 2	ClinVar	Detail
NM_000020.3(ACVRL1):c.1127T>G (p.Met376Arg) AND Cardiovascular phenotype	ClinVar	Detail
NA	DisGeNET	Detail
Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type ...	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: rs28936399 dbSNP
Genome: hg19
Position: chr12:52,309,898-52,309,898
Variant Type: snv
Reference Allele: T
Alternative Allele: G

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