rs763057510 Rat Genome Database

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Variant: rs763057510 -  Homo sapiens

RGD ID: 152175632
RS ID: rs763057510
ClinVar ID: CV1527002
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NAGLU  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 40,689,412
GRCh38 17 42,537,394
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000263.4:c.384-4G>A
NG_011552.1:g.6462G>A
NC_000017.11:g.42537394G>A
NC_000017.10:g.40689412G>A
 04/28/2023 intron variant likely benign Charcot-Marie-Tooth disease axonal type 2V; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2V; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2V; MPS 3B; MPS III B; Mucopoly-saccharidosis type 3B; Mucopolysaccharidosis type IIIB (Sanfilippo B); MUCOPOLYSACCHARIDOSIS, TYPE IIIB; N-acetyl-alpha-d-glucosaminidase deficiency; NAGLU DEFICIENCY; Sanfilippo syndrome B
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NAGLU
Accession:XM_047436138
Location:5UTRS;INTRON

Gene Symbol:NAGLU
Accession:XM_024450771
Location:INTRON

Gene Symbol:NAGLU
Accession:NM_000263
Location:INTRON

Gene Symbol:NAGLU
Accession:XM_047436139
Location:INTRON

Gene Symbol:NAGLU
Accession:XM_017024687
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002163768 CLINVAR
dbSNP (RS) rs763057510 CLINVAR
MedGen C0086648 CLINVAR
NCBI Gene NAGLU CLINVAR
OMIM 252920 CLINVAR
  609701 CLINVAR
  616491 CLINVAR
SNOMED CT 59990008 CLINVAR