RGD:12901133 Rat Genome Database

Variant: RGD:12901133 - Homo sapiens

RGD ID:

12901133

RS ID:

rs1051316

ClinVar ID:

CV410874

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CBS

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	21	44,473,968
GRCh38	21	43,053,858

JBrowse:

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Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_000071.2:c.22C>T LRG_777t1:c.22C>T LRG_777:g.27073C>T NG_008938.1:g.27073C>T More...	08/08/2016	3 prime utr variant	uncertain significance	AllHighlyPenetrant

Variant Details

Variant Transcripts

Gene Symbol:	CBS
Accession:	NM_000071
Location:	3UTRS;EXON

Gene Symbol:	CBS
Accession:	XM_011529777
Location:	3UTRS;EXON

Gene Symbol:	CBS
Accession:	XM_047441021
Location:	3UTRS;EXON

Gene Symbol:	CBS
Accession:	XM_047441023
Location:	3UTRS;EXON

Gene Symbol:	CBS
Accession:	XM_047441028
Location:	3UTRS;EXON

Gene Symbol:	CBS
Accession:	XM_047441022
Location:	3UTRS;EXON

Gene Symbol:	CBS
Accession:	NM_001178008
Location:	3UTRS;EXON

Gene Symbol:	CBS
Accession:	XM_047441027
Location:	3UTRS;EXON

Gene Symbol:	CBS
Accession:	NM_001321072
Location:	3UTRS;EXON

Gene Symbol:	CBS
Accession:	XM_047441025
Location:	3UTRS;EXON

Gene Symbol:	CBS
Accession:	XM_047441018
Location:	3UTRS;EXON

Gene Symbol:	CBS
Accession:	XM_047441017
Location:	3UTRS;EXON

Gene Symbol:	CBS
Accession:	XM_011529783
Location:	3UTRS;EXON

Gene Symbol:	CBS
Accession:	XM_047441026
Location:	3UTRS;EXON

Gene Symbol:	CBS
Accession:	XM_047441032
Location:	3UTRS;EXON

Gene Symbol:	CBS
Accession:	NM_001320298
Location:	3UTRS;EXON

Gene Symbol:	CBS
Accession:	XM_047441024
Location:	3UTRS;EXON

Gene Symbol:	CBS
Accession:	NM_001178009
Location:	3UTRS;INTRON

Gene Symbol:	CBS
Accession:	XM_017028491
Location:	3UTRS;INTRON

Gene Symbol:	CBS
Accession:	XM_047441031
Location:	3UTRS;INTRON

Gene Symbol:	CBS
Accession:	XM_047441020
Location:	3UTRS;INTRON

Gene Symbol:	CBS
Accession:	XM_011529774
Location:	3UTRS;INTRON

Gene Symbol:	CBS
Accession:	XM_047441030
Location:	3UTRS;INTRON

Gene Symbol:	CBS
Accession:	XM_047441029
Location:	3UTRS;INTRON

Gene Symbol:	CBS
Accession:	XM_047441033
Location:	3UTRS;INTRON

Gene Symbol:	CBS
Accession:	XM_047441019
Location:	3UTRS;INTRON

Gene Symbol:	CBS
Accession:	XR_007067793
Location:	INTRON;NON-CODING

Gene Symbol:	CBS
Accession:	XR_001754915
Location:	INTRON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000483992	CLINVAR
dbSNP (RS)	rs1051316	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	CBS	CLINVAR
OMIM	613381	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:12901133 - Homo sapiens