RGD:11626638 Rat Genome Database

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Variant: RGD:11626638 -  Homo sapiens

RGD ID: 11626638
RS ID: rs142905348
ClinVar ID: CV346842
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL6A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 47,424,814
GRCh38 21 46,004,900
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_475t1:c.*887C>T
LRG_475:g.28152C>T
NG_008674.1:g.28152C>T
NC_000021.9:g.46004900C>T
More... 		01/13/2018 3 prime utr variant benign|likely benign 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 RCV000267732 CLINVAR
dbSNP (RS) rs142905348 CLINVAR
MedGen CN117976 CLINVAR
NCBI Gene COL6A1 CLINVAR
OMIM 120220 CLINVAR