chr12:52308293:CTC> 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	chr12:52,308,293-52,308,295
hg38	chr12:51,914,509-51,914,511

HGVS

ACVRL1

Type	Transcript	Protein
RefSeq	NM_000020.2:c.696_698delCTC	NP_000011.2:p.Ser233del
	NM_001077401.1:c.738_740delCTC	NP_001070869.1:p.Ser247del
Ensemble	ENST00000551576.6:c.696_698delCTC	ENST00000551576.6:p.Ser233del
	ENST00000419526.6:c.174_176delCTC	ENST00000419526.6:p.Ser59del
	ENST00000388922.9:c.696_698delCTC	ENST00000388922.9:p.Ser233del
	ENST00000550683.5:c.738_740delCTC	ENST00000550683.5:p.Ser247del
	ENST00000713619.1:c.667+29_667+31delCTC
	ENST00000552678.2:c.696_698delCTC	ENST00000552678.2:p.Ser233del
	ENST00000547400.6:c.426_428delCTC	ENST00000547400.6:p.Ser143del

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.440	OSLER-RENDU-WEBER SYNDROME 2	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
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: rs387906391 dbSNP
Genome: hg19
Position: chr12:52,308,293-52,308,295
Variant Type: snv
Reference Allele: CTC
Alternative Allele: -

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