RGD:153002164 Rat Genome Database

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Variant: RGD:153002164 -  Homo sapiens

RGD ID: 153002164
RS ID: rs1001179
ClinVar ID: CV1685433
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 34,460,231
GRCh38 11 34,438,684
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Clinical Significance Trait Synonyms
NG_013339.2:g.4760C>G
NC_000011.10:g.34438684C>G
NC_000011.9:g.34460231C>G
 uncertain significance Acatalasemia; ACATALASEMIA, HUNGARIAN TYPE; Catalase deficiency
Disease Annotations     Click to see Annotation Detail View
acatalasia  (IAGP)


Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002259420 CLINVAR
dbSNP (RS) rs1001179 CLINVAR
MedGen C0268419 CLINVAR
NCBI Gene CAT CLINVAR
OMIM 115500 CLINVAR
  614097 CLINVAR