RGD:11626738 Rat Genome Database

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Variant: RGD:11626738 -  Homo sapiens

RGD ID: 11626738
RS ID: rs376729246
ClinVar ID: CV346829
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL6A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 47,423,940
GRCh38 21 46,004,026
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_475t1:c.*13G>A
LRG_475:g.27278G>A
NG_008674.1:g.27278G>A
NC_000021.9:g.46004026G>A
More... 		01/12/2018 3 prime utr variant uncertain significance Collagen VI-related myopathy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL6A1
Accession:NM_001848
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000268804 CLINVAR
dbSNP (RS) rs376729246 CLINVAR
MedGen CN117976 CLINVAR
NCBI Gene COL6A1 CLINVAR
OMIM 120220 CLINVAR