RGD:11644841 Rat Genome Database

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Variant: RGD:11644841 -  Homo sapiens

RGD ID: 11644841
RS ID: rs886063536
ClinVar ID: CV311220
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127816391  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 134,378,296
GRCh38 9 131,502,909
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000009.12:g.131502909C>T
NC_000009.11:g.134378296C>T
LRG_842:g.5008C>T
NG_008896.2:g.5008C>T
More... 		01/13/2018 5 prime utr variant uncertain significance Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000261884 CLINVAR
dbSNP (RS) rs886063536 CLINVAR
MedGen C1836373 CLINVAR
NCBI Gene POMT1 CLINVAR
OMIM 607423 CLINVAR
  609308 CLINVAR