RGD:11646749 Rat Genome Database

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Variant: RGD:11646749 -  Homo sapiens

RGD ID: 11646749
RS ID: rs886047155
ClinVar ID: CV322166
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127818321  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 73,611,040
GRCh38 10 71,851,283
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
NC_000010.11:g.71851283T>C
NM_002778.2:c.-62A>G
NG_009301.1:g.5043A>G
NC_000010.10:g.73611040T>C
More... 		06/14/2016 5 prime utr variant uncertain significance adolescent|infancy 1-9 / 1 000 000|1-9 / 100 000|<1 / 1 000 000 Arylsulfatase A Deficiency; Cerebral sclerosis diffuse metachromatic form; Cerebroside sulfatase deficiency; COMBINED SAP DEFICIENCY; Combined saposin deficiency; Encephalopathy due to prosaposin deficiency; Galactocerebrosidase deficiency; Globoid cell leukoencephalopathy; Krabbe leukodystrophy; Leukodystrophy, Globoid Cell; Metachromatic leukoencephalopathy; PROSAPOSIN DEFICIENCY; Sulfatide lipidosis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000269230 CLINVAR
  RCV000272681 CLINVAR
  RCV000326587 CLINVAR
  RCV000364883 CLINVAR
dbSNP (RS) rs886047155 CLINVAR
MedGen C0023521 CLINVAR
  C0023522 CLINVAR
  C2673635 CLINVAR
  CN239218 CLINVAR
NCBI Gene PSAP CLINVAR
OMIM 176801 CLINVAR
  245200 CLINVAR
  250100 CLINVAR
  611721 CLINVAR
SNOMED CT 192782005 CLINVAR
  396338004 CLINVAR