RGD:11598979 Rat Genome Database

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Variant: RGD:11598979 -  Homo sapiens

RGD ID: 11598979
RS ID: rs58405430
ClinVar ID: CV313557
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 20,621,043
GRCh38 11 20,599,497
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000011.10:g.20599497T>G
NC_000011.9:g.20621043T>G
NM_004211.3:c.-176T>G
NM_004211.4:c.-176T>G
More... 		05/17/2021 5 prime utr variant benign none provided
Disease Annotations     Click to see Annotation Detail View
hyperekplexia  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000261613 CLINVAR
  RCV001683223 CLINVAR
dbSNP (RS) rs58405430 CLINVAR
MedGen C0234166 CLINVAR
  C3661900 CLINVAR
NCBI Gene SLC6A5 CLINVAR
OMIM 604159 CLINVAR