RGD:13820653 Rat Genome Database

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Variant: RGD:13820653 - Homo sapiens

RGD ID:

13820653

RS ID:

rs1288729113

ClinVar ID:

CV565580

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ACVRL1 LOC127824197

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	12	52,307,789
GRCh38	12	51,914,005

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_543t1:c.557G>T LRG_543:g.11588G>T NG_009549.1:g.11588G>T NC_000012.12:g.51914005G>T More...	10/13/2022	missense variant	likely pathogenic\|uncertain significance	Osler Weber Rendu syndrome type 2; Telangiectasia, hereditary hemorrhagic, type II

Disease Annotations Click to see Annotation Detail View

Hereditary Hemorrhagic Telangiectasia, Type 2 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	ACVRL1
Accession:	NM_001077401
Location:	EXON
Amino Acid Prediction:	S to I (nonsynonymous)
Amino Acid Position:	186

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTLGSPRKGLLMLLMALVTQGDPVKPSRGPLVTCTCESPHCKGPTCRGAWCTVVLVREEGRHPQEHRGCGNLHRELCRGR PTEFVNHYCCDSHLCNHNVSLVLEATQPPSEQPGTDGQLALILGPVLALLALVALGVLGLWHVRRRQEKQRGLHSELGES SLILKASEQGDSMLGDLLDSDCTTGIGSGLPFLVQRTVARQVALVECVGKGRYGEVWRGLWHGESVAVKIFSSRDEQSWF RETEIYNTVLLRHDNILGFIASDMTSRNSSTQLWLITHYHEHGSLYDFLQRQTLEPHLALRLAVSAACGLAHLHVEIFGT QGKPAIAHRDFKSRNVLVKSNLQCCIADLGLAVMHSQGSDYLDIGNNPRVGTKRYMAPEVLDEQIRTDCFESYKWTDIWA FGLVLWEIARRTIVNGIVEDYRPPFYDVVPNDPSFEDMKKVVCVDQQTPTIPNRLAADPVLSGLAQMMRECWYPNPSARL TALRIKKTLQKISNSPEKPKVIQ*

Gene Symbol:	ACVRL1
Accession:	NM_001406488
Location:	EXON
Amino Acid Prediction:	S to I (nonsynonymous)
Amino Acid Position:	186

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTLGSPRKGLLMLLMALVTQGDPVKPSRGPLVTCTCESPHCKGPTCRGAWCTVVLVREEGRHPQEHRGCGNLHRELCRGR PTEFVNHYCCDSHLCNHNVSLVLEATQPPSEQPGTDGQLALILGPVLALLALVALGVLGLWHVRRRQEKQRGLHSELGES SLILKASEQGDSMLGDLLDSDCTTGIGSGLPFLVQRTVARQVALVECVGKGRYGEVWRGLWHGESVAVKIFSSRDEQSWF RETEIYNTVLLRHDNILGFIASDMTSRNSSTQLWLITHYHEHGSLYDFLQRQTLEPHLALRLAVSAACGLAHLHVEIFGT QGKPAIAHRDFKSRNVLVKSNLQCCIADLGLAVMHSQGSDYLDIGNNPRVGTKRYMAPEVLDEQIRTDCFESYKWTDIWA FGLVLWEIARRTIVNGIVEDYRPPFYDVVPNDPSFEDMKKVVCVDQQTPTIPNRLAADPVRPLLGLGWRGVVAHGWDFWA QELVSEASASSHRY*

Gene Symbol:	ACVRL1
Accession:	NM_001406489
Location:	EXON
Amino Acid Prediction:	S to I (nonsynonymous)
Amino Acid Position:	186

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTLGSPRKGLLMLLMALVTQGDPVKPSRGPLVTCTCESPHCKGPTCRGAWCTVVLVREEGRHPQEHRGCGNLHRELCRGR PTEFVNHYCCDSHLCNHNVSLVLEATQPPSEQPGTDGQLALILGPVLALLALVALGVLGLWHVRRRQEKQRGLHSELGES SLILKASEQGDSMLGDLLDSDCTTGIGSGLPFLVQRTVARQVALVECVGKGRYGEVWRGLWHGESVAVKIFSSRDEQSWF RETEIYNTVLLRHDNILGFIASDMTSRNSSTQLWLITHYHEHGSLYDFLQRQTLEPHLALRLAVSAACGLAHLHVEIFGT QGKPAIAHRDFKSRNVLVKSNLQCCIADLGLAVMHSQGSDYLDIGNNPRVGTKRYMAPEVLDEQIRTDCFESYKWTDIWA FGLVLWEIARRTIVNGIVEDYRPPFYDVVPNDPSFEDMKKVVCVDQQTPTIPNRLAADPVRPLLGLGWRGVVAHGWDFWA QELVSEASASSHRY*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	S to I (nonsynonymous)
Amino Acid Position:	186

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTLGSPRKGLLMLLMALVTQGDPVKPSRGPLVTCTCESPHCKGPTCRGAWCTVVLVREEGRHPQEHRGCGNLHRELCRGR PTEFVNHYCCDSHLCNHNVSLVLEATQPPSEQPGTDGQLALILGPVLALLALVALGVLGLWHVRRRQEKQRGLHSELGES SLILKASEQGDSMLGDLLDSDCTTGIGSGLPFLVQRTVARQVALVECVGKGRYGEVWRGLWHGESVAVKIFSSRDEQSWF RETEIYNTVLLRHDNILGFIASDMTSRNSSTQLWLITHYHEHGSLYDFLQRQTLEPHLALRLAVSAACGLAHLHVEIFGT QGKPAIAHRDFKSRNVLVKSNLQCCIADLGLAVMHSQGSDYLDIGNNPRVGTKRYMAPEVLDEQIRTDCFESYKWTDIWA FGLVLWEIARRTIVNGIVEDYRPPFYDVVPNDPSFEDMKKVVCVDQQTPTIPNRLAADPVLSGLAQMMRECWYPNPSARL TALRIKKTLQKISNSPEKPKVIQ*

Gene Symbol:	ACVRL1
Accession:	XM_047429901
Location:	EXON
Amino Acid Prediction:	S to I (nonsynonymous)
Amino Acid Position:	186

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTLGSPRKGLLMLLMALVTQGDPVKPSRGPLVTCTCESPHCKGPTCRGAWCTVVLVREEGRHPQEHRGCGNLHRELCRGR PTEFVNHYCCDSHLCNHNVSLVLEATQPPSEQPGTDGQLALILGPVLALLALVALGVLGLWHVRRRQEKQRGLHSELGES SLILKASEQGDSMLGDLLDSDCTTGIGSGLPFLVQRTVARQVALVECVGKGRYGEVWRGLWHGESVAVKIFSSRDEQSWF RETEIYNTVLLRHDNILGFIASDMTSRNSSTQLWLITHYHEHGSLYDFLQRQTLEPHLALRLAVSAACGLAHLHVEIFGT QGKPAIAHRDFKSRNVLVKSNLQCCIADLGLAVMHSQGSDYLDIGNNPRVGTKRYMAPEVLDEQIRTDCFESYKWTDIWA FGLVLWEIARRTIVNGIVEDYRPPFYDVVPNDPSFEDMKKVVCVDQQTPTIPNRLAADPVLSGLAQMMRECWYPNPSARL TALRIKKTLQKISNSPEKPKVIQ*

Gene Symbol:	ACVRL1
Accession:	NM_000020
Location:	EXON
Amino Acid Prediction:	S to I (nonsynonymous)
Amino Acid Position:	186

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTLGSPRKGLLMLLMALVTQGDPVKPSRGPLVTCTCESPHCKGPTCRGAWCTVVLVREEGRHPQEHRGCGNLHRELCRGR PTEFVNHYCCDSHLCNHNVSLVLEATQPPSEQPGTDGQLALILGPVLALLALVALGVLGLWHVRRRQEKQRGLHSELGES SLILKASEQGDSMLGDLLDSDCTTGIGSGLPFLVQRTVARQVALVECVGKGRYGEVWRGLWHGESVAVKIFSSRDEQSWF RETEIYNTVLLRHDNILGFIASDMTSRNSSTQLWLITHYHEHGSLYDFLQRQTLEPHLALRLAVSAACGLAHLHVEIFGT QGKPAIAHRDFKSRNVLVKSNLQCCIADLGLAVMHSQGSDYLDIGNNPRVGTKRYMAPEVLDEQIRTDCFESYKWTDIWA FGLVLWEIARRTIVNGIVEDYRPPFYDVVPNDPSFEDMKKVVCVDQQTPTIPNRLAADPVLSGLAQMMRECWYPNPSARL TALRIKKTLQKISNSPEKPKVIQ*

Gene Symbol:	ACVRL1
Accession:	NM_001406487
Location:	EXON
Amino Acid Prediction:	S to I (nonsynonymous)
Amino Acid Position:	186

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTLGSPRKGLLMLLMALVTQGDPVKPSRGPLVTCTCESPHCKGPTCRGAWCTVVLVREEGRHPQEHRGCGNLHRELCRGR PTEFVNHYCCDSHLCNHNVSLVLEATQPPSEQPGTDGQLALILGPVLALLALVALGVLGLWHVRRRQEKQRGLHSELGES SLILKASEQGDSMLGDLLDSDCTTGIGSGLPFLVQRTVARQVALVECVGKGRYGEVWRGLWHGESVAVKIFSSRDEQSWF RETEIYNTVLLRHDNILGFIASDMTSRNSSTQLWLITHYHEHGSLYDFLQRQTLEPHLALRLAVSAACGLAHLHVEIFGT QGKPAIAHRDFKSRNVLVKSNLQCCIADLGLAVMHSQGSDYLDIGNNPRVGTKRYMAPEVLDEQIRTDCFESYKWTDIWA FGLVLWEIARRTIVNGIVEDYRPPFYDVVPNDPSFEDMKKVVCVDQQTPTIPNRLAADPVLSGLAQMMRECWYPNPSARL TALRIKKTLQKISNSPEKPKVIQ*

Gene Symbol:	ACVRL1
Accession:	NM_001406491
Location:	INTRON

Gene Symbol:	ACVRL1
Accession:	NM_001406493
Location:	INTRON

Gene Symbol:	ACVRL1
Accession:	NM_001406492
Location:	INTRON

Gene Symbol:	ACVRL1
Accession:	NM_001406490
Location:	INTRON

Gene Symbol:
Accession:
Location:	INTRON

Gene Symbol:	ACVRL1
Accession:	NM_001406495
Location:	INTRON

Gene Symbol:
Accession:
Location:	INTRON

Gene Symbol:	ACVRL1
Accession:	NM_001406494
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000695078	CLINVAR
	RCV002343486	CLINVAR
dbSNP (RS)	rs1288729113	CLINVAR
MedGen	C1838163	CLINVAR
	CN230736	CLINVAR
NCBI Gene	ACVRL1	CLINVAR
OMIM	600376	CLINVAR
	601284	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:13820653 - Homo sapiens

Imported Disease Annotations - ClinVar