RGD:10048954 Rat Genome Database

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Variant: RGD:10048954 -  Homo sapiens

RGD ID: 10048954
RS ID: rs2854827
ClinVar ID: CV195223
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NAGA  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 42,461,918
GRCh38 22 42,065,914
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NG_009247.1:g.9929C>T
NC_000022.11:g.42065914G>A
NC_000022.10:g.42461918G>A
NM_000262.3:c.598-15C>T
More... 		11/20/2020 intron variant benign <1 / 1 000 000 AllHighlyPenetrant; Alpha-N-acetylgalactosaminidase deficiency adult onset; ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE I; ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE II; Kanzaki disease; NAGA deficiency type 2; NAGA deficiency, type 1; NAGA DEFICIENCY, TYPE I; NAGA DEFICIENCY, TYPE II; Neuroaxonal dystrophy, Schindler type; none provided; Schindler disease type 2; Schindler disease, type 1; SCHINDLER DISEASE, TYPE I; SCHINDLER DISEASE, TYPE II
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NAGA
Accession:NM_001362850
Location:INTRON

Gene Symbol:NAGA
Accession:NM_000262
Location:INTRON

Gene Symbol:NAGA
Accession:NM_001362848
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000179279 CLINVAR
  RCV000311665 CLINVAR
  RCV000368866 CLINVAR
  RCV000675777 CLINVAR
dbSNP (RS) rs2854827 CLINVAR
MedGen C1836522 CLINVAR
  C1836544 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene NAGA CLINVAR
OMIM 104170 CLINVAR
  609241 CLINVAR
  609242 CLINVAR