RGD:150405326 Rat Genome Database

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Variant: RGD:150405326 -  Homo sapiens

RGD ID: 150405326
RS ID: rs574222596
ClinVar ID: CV1190903
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 137,533,785
GRCh38 9 134,641,939
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008030.1:g.5134G>A
LRG_737t2:c.-249G>A
LRG_737:g.5134G>A
NC_000009.12:g.134641939G>A
More... 		09/20/2019 5 prime utr variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:COL5A1
Accession:NM_001278074
Location:5UTRS;EXON

Gene Symbol:COL5A1
Accession:NM_000093
Location:5UTRS;EXON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001564230 CLINVAR
dbSNP (RS) rs574222596 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COL5A1 CLINVAR
OMIM 120215 CLINVAR