chr12:52308357:GAC> 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	chr12:52,308,357-52,308,359
hg38	chr12:51,914,573-51,914,575

HGVS

ACVRL1

Type	Transcript	Protein
RefSeq	NM_001077401.1:c.802_804delGAC	NP_001070869.1:p.Asp268del
	NM_000020.2:c.760_762delGAC	NP_000011.2:p.Asp254del
Ensemble	ENST00000552678.2:c.760_762delGAC	ENST00000552678.2:p.Asp254del
	ENST00000547400.6:c.490_492delGAC	ENST00000547400.6:p.Asp164del
	ENST00000713619.1:c.667+93_667+95delGAC
	ENST00000550683.5:c.802_804delGAC	ENST00000550683.5:p.Asp268del
	ENST00000388922.9:c.760_762delGAC	ENST00000388922.9:p.Asp254del
	ENST00000419526.6:c.238_240delGAC	ENST00000419526.6:p.Asp80del
	ENST00000551576.6:c.760_762delGAC	ENST00000551576.6:p.Asp254del

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
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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	2023-10-13	criteria provided, single submitter	Telangiectasia, hereditary hemorrhagic, type 2	germline	Detail
Pathogenic	2001-08-02	no assertion criteria provided	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia	germline	Detail
Pathogenic Likely pathogenic	2022-04-27	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Likely pathogenic	2022-03-02	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.760_762del (p.Asp254del) AND Telangiectasia, hereditary hemorrhagic, type 2	ClinVar	Detail
NM_000020.3(ACVRL1):c.760_762del (p.Asp254del) AND Pulmonary arterial hypertension related to heredi...	ClinVar	Detail
NM_000020.3(ACVRL1):c.760_762del (p.Asp254del) AND not provided	ClinVar	Detail
NM_000020.3(ACVRL1):c.760_762del (p.Asp254del) 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: rs387906393 dbSNP
Genome: hg19
Position: chr12:52,308,357-52,308,359
Variant Type: snv
Reference Allele: GAC
Alternative Allele: -

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