RGD:11592692 Rat Genome Database

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Variant: RGD:11592692 -  Homo sapiens

RGD ID: 11592692
RS ID: rs3729619
ClinVar ID: CV300527
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127406432  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 49,430,974
GRCh38 6 49,463,261
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007100.1:g.4879A>T
NC_000006.12:g.49463261T>A
NC_000006.11:g.49430974T>A
NM_000255.3:c.-198A>T
More... 		06/29/2018 5 prime utr variant benign Isolated Methylmalonic Acidemia; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000341461 CLINVAR
  RCV001643080 CLINVAR
dbSNP (RS) rs3729619 CLINVAR
MedGen C0268583 CLINVAR
  C3661900 CLINVAR
NCBI Gene MUT CLINVAR
OMIM 609058 CLINVAR
SNOMED CT 42393006 CLINVAR