RGD:11662615 Rat Genome Database

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Variant: RGD:11662615 -  Homo sapiens

RGD ID: 11662615
RS ID: rs886063669
ClinVar ID: CV307452
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 137,533,677
GRCh38 9 134,641,831
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001278074.1:c.-357G>T
NG_008030.1:g.5026G>T
NC_000009.12:g.134641831G>T
NC_000009.11:g.137533677G>T
More...
06/14/2016 5 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL5A1
Accession:NM_000093
Location:5UTRS;EXON

Gene Symbol:COL5A1
Accession:NM_001278074
Location:5UTRS;EXON

Gene Symbol:COL5A1
Accession:XM_017014266
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000387884 CLINVAR
dbSNP (RS) rs886063669 CLINVAR
MedGen C3508773 CLINVAR
NCBI Gene COL5A1 CLINVAR
OMIM 120215 CLINVAR