RGD:13790989 Rat Genome Database

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Variant: RGD:13790989 -  Homo sapiens

RGD ID: 13790989
RS ID: rs1554164078
ClinVar ID: CV543972
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC17A5  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 74,348,133
GRCh38 6 73,638,410
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000006.11:g.74348133A>T
NG_008272.1:g.20605T>A
NC_000006.12:g.73638410A>T
NM_001382633.1:c.613+2T>A
More... 		05/09/2017 splice donor variant likely pathogenic Free Sialic Acid Storage Disorders; Infantile sialic acid storage disorder (ISSD); N-acetylneuraminic acid (NANA) storage disease (NSD); Sialuria, Finnish type
Disease Annotations     Click to see Annotation Detail View
sialuria  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:SLC17A5
Accession:NM_001382629
Location:INTRON

Gene Symbol:SLC17A5
Accession:NM_001382634
Location:INTRON

Gene Symbol:SLC17A5
Accession:NM_001382633
Location:INTRON

Gene Symbol:SLC17A5
Accession:NM_001382636
Location:INTRON

Gene Symbol:SLC17A5
Accession:XM_047418630
Location:INTRON

Gene Symbol:SLC17A5
Accession:NM_012434
Location:INTRON

Gene Symbol:SLC17A5
Accession:NM_001382635
Location:INTRON

Gene Symbol:SLC17A5
Accession:NM_001382630
Location:INTRON

Gene Symbol:SLC17A5
Accession:XM_047418631
Location:INTRON

Gene Symbol:SLC17A5
Accession:NM_001382632
Location:INTRON

Gene Symbol:SLC17A5
Accession:NM_001382631
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000666942 CLINVAR
dbSNP (RS) rs1554164078 CLINVAR
MedGen C1096903 CLINVAR
NCBI Gene SLC17A5 CLINVAR
OMIM 604322 CLINVAR
  604369 CLINVAR
SNOMED CT 87074006 CLINVAR