RGD:28870947 Rat Genome Database

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Variant: RGD:28870947 -  Homo sapiens

RGD ID: 28870947
RS ID: rs775550670
ClinVar ID: CV899184
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TUSC3  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 15,623,702
GRCh38 8 15,766,193
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_178234.2:c.*1975G>C
NM_006765.4:c.*2037G>C
NG_012141.2:g.230973G>C
NC_000008.11:g.15766193G>C
More... 		01/13/2018 3 prime utr variant uncertain significance Carbohydrate-deficient glycoprotein syndrome; Congenital disorders of glycosylation
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TUSC3
Accession:NM_001413674
Location:3UTRS;EXON

Gene Symbol:TUSC3
Accession:NM_001413676
Location:3UTRS;EXON

Gene Symbol:TUSC3
Accession:NM_001413670
Location:3UTRS;EXON

Gene Symbol:TUSC3
Accession:NM_001413690
Location:3UTRS;EXON

Gene Symbol:TUSC3
Accession:NM_006765
Location:3UTRS;EXON

Gene Symbol:TUSC3
Accession:XM_047422264
Location:3UTRS;EXON

Gene Symbol:TUSC3
Accession:NM_001413671
Location:3UTRS;EXON

Gene Symbol:TUSC3
Accession:NM_001413677
Location:3UTRS;EXON

Gene Symbol:TUSC3
Accession:NM_178234
Location:3UTRS;EXON

Gene Symbol:TUSC3
Accession:NM_001413672
Location:3UTRS;EXON

Gene Symbol:TUSC3
Accession:XM_047422265
Location:3UTRS;EXON

Gene Symbol:TUSC3
Accession:NM_001413689
Location:3UTRS;EXON

Gene Symbol:TUSC3
Accession:NM_001413669
Location:3UTRS;EXON

Gene Symbol:TUSC3
Accession:NM_001413678
Location:3UTRS;EXON

Gene Symbol:TUSC3
Accession:NR_182197
Location:EXON;NON-CODING

Gene Symbol:TUSC3
Accession:NR_182199
Location:EXON;NON-CODING

Gene Symbol:TUSC3
Accession:NR_182196
Location:EXON;NON-CODING

Gene Symbol:TUSC3
Accession:NR_182195
Location:EXON;NON-CODING

Gene Symbol:TUSC3
Accession:NR_182198
Location:EXON;NON-CODING

Gene Symbol:TUSC3
Accession:NM_001413691
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_001413673
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_001413679
Location:INTRON

Gene Symbol:TUSC3
Accession:XM_047422263
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_001413683
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_001413682
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_001413680
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_001413688
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_001413681
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_001356429
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_001413684
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_001413686
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_001413687
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_001413685
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_001413583
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_001413675
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001163735 CLINVAR
dbSNP (RS) rs775550670 CLINVAR
MedGen C0282577 CLINVAR
NCBI Gene TUSC3 CLINVAR
OMIM 601385 CLINVAR
SNOMED CT 238049009 CLINVAR