RGD:11658220 Rat Genome Database

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Variant: RGD:11658220 -  Homo sapiens

RGD ID: 11658220
RS ID: rs886057821
ClinVar ID: CV292106
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 120,401,365
GRCh38 3 120,682,518
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_011957.1:g.4964C>T
NC_000003.12:g.120682518G>A
NC_000003.11:g.120401365G>A
NM_000187.3:c.-407C>T
 06/14/2016 5 prime utr variant uncertain significance adult 1-9 / 1 000 000 Alcaptonuria; Alkaptonuric ochronosis; Homogentisic acid oxidase deficiency; Homogentisic acidura; Ochronosis, hereditary
Disease Annotations     Click to see Annotation Detail View
alkaptonuria  (IAGP)


Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000347481 CLINVAR
dbSNP (RS) rs886057821 CLINVAR
MedGen C0002066 CLINVAR
NCBI Gene HGD CLINVAR
OMIM 203500 CLINVAR
  607474 CLINVAR