rs149722210 Rat Genome Database

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Variant: rs149722210 - Homo sapiens

RGD ID:

10048781

RS ID:

rs149722210

ClinVar ID:

CV194638

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

COL3A1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	2	189,871,110
GRCh38	2	189,006,384

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	Age of Onset	Prevalence	Trait Synonyms
LRG_3t1:c.3133G>A LRG_3:g.37012G>A NG_007404.1:g.37012G>A NC_000002.12:g.189006384G>A More...	11/25/2020	missense variant	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	infancy\|neonatal	1-9 / 100 000	AllHighlyPenetrant; Connective tissue disease; ED syndrome; Ehlers Danlos syndrome, arterial type; Ehlers Danlos syndrome, ecchymotic type; Ehlers Danlos syndrome, Sack-Barabas type; Ehlers-Danlos Syndrome Type IV; Ehlers-Danlos syndrome vascular type; none provided; Thoracic aortic aneurysms and dissections

Disease Annotations Click to see Annotation Detail View

connective tissue disease (IAGP)

Ehlers-Danlos syndrome (IAGP)

Ehlers-Danlos Syndrome Type 4 (IAGP)

thoracic aortic aneurysm (IAGP)

vascular type Ehlers-Danlos syndrome (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	COL3A1
Accession:	NM_000090
Location:	EXON
Amino Acid Prediction:	A to T (nonsynonymous)
Amino Acid Position:	1045

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMSFVQKGSWLLLALLHPTIILAQQEAVEGGCSHLGQSYADRDVWKPEPCQICVCDSGSVLCDDIICDDQELDCPNPEIP FGECCAVCPQPPTAPTRPPNGQGPQGPKGDPGPPGIPGRNGDPGIPGQPGSPGSPGPPGICESCPTGPQNYSPQYDSYDV KSGVAVGGLAGYPGPAGPPGPPGPPGTSGHPGSPGSPGYQGPPGEPGQAGPSGPPGPPGAIGPSGPAGKDGESGRPGRPG ERGLPGPPGIKGPAGIPGFPGMKGHRGFDGRNGEKGETGAPGLKGENGLPGENGAPGPMGPRGAPGERGRPGLPGAAGAR GNDGARGSDGQPGPPGPPGTAGFPGSPGAKGEVGPAGSPGSNGAPGQRGEPGPQGHAGAQGPPGPPGINGSPGGKGEMGP AGIPGAPGLMGARGPPGPAGANGAPGLRGGAGEPGKNGAKGEPGPRGERGEAGIPGVPGAKGEDGKDGSPGEPGANGLPG AAGERGAPGFRGPAGPNGIPGEKGPAGERGAPGPAGPRGAAGEPGRDGVPGGPGMRGMPGSPGGPGSDGKPGPPGSQGES GRPGPPGPSGPRGQPGVMGFPGPKGNDGAPGKNGERGGPGGPGPQGPPGKNGETGPQGPPGPTGPGGDKGDTGPPGPQGL QGLPGTGGPPGENGKPGEPGPKGDAGAPGAPGGKGDAGAPGERGPPGLAGAPGLRGGAGPPGPEGGKGAAGPPGPPGAAG TPGLQGMPGERGGLGSPGPKGDKGEPGGPGADGVPGKDGPRGPTGPIGPPGPAGQPGDKGEGGAPGLPGIAGPRGSPGER GETGPPGPAGFPGAPGQNGEPGGKGERGAPGEKGEGGPPGVAGPPGGSGPAGPPGPQGVKGERGSPGGPGAAGFPGARGL PGPPGSNGNPGPPGPSGSPGKDGPPGPAGNTGAPGSPGVSGPKGDAGQPGEKGSPGAQGPPGAPGPLGIAGITGARGLAG PPGMPGPRGSPGPQGVKGESGKPGANGLSGERGPPGPQGLPGLAGTAGEPGRDGNPGSDGLPGRDGSPGGKGDRGENGSP GAPGTPGHPGPPGPVGPAGKSGDRGESGPAGPAGAPGPAGSRGAPGPQGPRGDKGETGERGAAGIKGHRGFPGNPGAPGS PGPAGQQGAIGSPGPAGPRGPVGPSGPPGKDGTSGHPGPIGPPGPRGNRGERGSEGSPGHPGQPGPPGPPGAPGPCCGGV GAAAIAGIGGEKAGGFAPYYGDEPMDFKINTDEIMTSLKSVNGQIESLISPDGSRKNPARNCRDLKFCHPELKSGEYWVD PNQGCKLDAIKVFCNMETGETCISANPLNVPRKHWWTDSSAEKKHVWFGESMDGGFQFSYGNPELPEDVLDVHLAFLRLL SSRASQNITYHCKNSIAYMDQASGNVKKALKLMGSNEGEFKAEGNSKFTYTVLEDGCTKHTGEWSKTVFEYRTRKAVRLP IVDIAPYDIGGPDQEFGVDVGPVCFL*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:22001912	PMID:24033266	PMID:25637381	PMID:25741868	PMID:25834947	PMID:27888582	PMID:28492532	PMID:30115950

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000178514	CLINVAR
	RCV000210893	CLINVAR
	RCV000587574	CLINVAR
	RCV000659428	CLINVAR
	RCV000776192	CLINVAR
	RCV002277404	CLINVAR
dbSNP (RS)	rs149722210	CLINVAR
MedGen	C0009782	CLINVAR
	C0013720	CLINVAR
	C0268338	CLINVAR
	C3661900	CLINVAR
	C4707243	CLINVAR
	CN169374	CLINVAR
NCBI Gene	COL3A1	CLINVAR
OMIM	120180	CLINVAR
	130050	CLINVAR
SNOMED CT	17025000	CLINVAR
	398114001	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: rs149722210 - Homo sapiens

Imported Disease Annotations - ClinVar