RGD:11614647 Rat Genome Database

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Variant: RGD:11614647 -  Homo sapiens

RGD ID: 11614647
RS ID: rs541941155
ClinVar ID: CV327459
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL4A2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 13 111,164,988
GRCh38 13 110,512,641
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_032137.1:g.210358G>T
NC_000013.11:g.110512641G>T
NC_000013.10:g.111164988G>T
NM_001846.2:c.*450G>T
More... 		06/14/2016 3 prime utr variant uncertain significance BRAIN SMALL VESSEL DISEASE 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL4A2
Accession:NM_001846
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000278584 CLINVAR
dbSNP (RS) rs541941155 CLINVAR
MedGen C3280970 CLINVAR
NCBI Gene COL4A2 CLINVAR
OMIM 120090 CLINVAR
  614483 CLINVAR