chr12:51916219:G>A Detail (hg38) (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	chr12:52,310,003-52,310,003 View the variant detail on this assembly version.
hg38	chr12:51,916,219-51,916,219

HGVS

ACVRL1

Type	Transcript	Protein
RefSeq	NM_000020.2:c.1232G>A	NP_000011.2:p.Arg411Gln
	NM_001077401.1:c.1274G>A	NP_001070869.1:p.Arg425Gln
Ensemble	ENST00000388922.9:c.1232G>A	ENST00000388922.9:p.Arg411Gln
	ENST00000419526.6:c.710G>A	ENST00000419526.6:p.Arg237Gln
	ENST00000547400.6:c.962G>A	ENST00000547400.6:p.Arg321Gln
	ENST00000550683.5:c.1274G>A	ENST00000550683.5:p.Arg425Gln
	ENST00000551576.6:c.1232G>A	ENST00000551576.6:p.Arg411Gln
	ENST00000552678.2:c.1232G>A	ENST00000552678.2:p.Arg411Gln
	ENST00000713619.1:c.1127G>A	ENST00000713619.1:p.Arg376Gln

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

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

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

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	COSM6072720	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2024-03-15	reviewed by expert panel	Telangiectasia, hereditary hemorrhagic, type 2	de novo germline unknown	Detail
Pathogenic	2004-04-01	no assertion criteria provided	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia	germline	Detail
Pathogenic	2023-02-28	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2022-10-19	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

Annotation

Annotations

Descrption	Source	Links
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln) AND Telangiectasia, hereditary hemorrhagic, type 2	ClinVar	Detail
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln) AND Pulmonary arterial hypertension related to hereditar...	ClinVar	Detail
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln) AND not provided	ClinVar	Detail
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln) AND Cardiovascular phenotype	ClinVar	Detail
NA	DisGeNET	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: rs121909284 dbSNP
Genome: hg38
Position: chr12:51,916,219-51,916,219
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8502
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 117620
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.501955449753444E-6

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