rs57188545 Rat Genome Database

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Variant: rs57188545 -  Homo sapiens

RGD ID: 150448077
RS ID: rs57188545
ClinVar ID: CV1275488
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NAGLU  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 40,693,398
GRCh38 17 42,541,380
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011552.1:g.10448T>C
NC_000017.11:g.42541380T>C
NC_000017.10:g.40693398T>C
NM_000263.4:c.1021+174T>C
 04/20/2019 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NAGLU
Accession:XM_047436139
Location:INTRON

Gene Symbol:NAGLU
Accession:XM_017024687
Location:INTRON

Gene Symbol:NAGLU
Accession:NM_000263
Location:INTRON

Gene Symbol:NAGLU
Accession:XM_047436138
Location:INTRON

Gene Symbol:NAGLU
Accession:XM_024450771
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001707943 CLINVAR
dbSNP (RS) rs57188545 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NAGLU CLINVAR
OMIM 609701 CLINVAR