RGD:8640808 Rat Genome Database

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Variant: RGD:8640808 -  Homo sapiens

RGD ID: 8640808
RS ID: rs78884675
ClinVar ID: CV99794
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL6A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 47,409,502
GRCh38 21 45,989,588
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_475t1:c.859-20C>T
LRG_475:g.12840C>T
NG_008674.1:g.12840C>T
NC_000021.9:g.45989588C>T
More... 		08/02/2016 intron|intron variant benign|likely benign|conflicting interpretations of pathogenicity AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:COL6A1
Accession:NM_001848
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000079831 CLINVAR
  RCV001729383 CLINVAR
dbSNP (RS) rs78884675 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene COL6A1 CLINVAR
OMIM 120220 CLINVAR