RGD:28888074 Rat Genome Database

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Variant: RGD:28888074 -  Homo sapiens

RGD ID: 28888074
RS ID: rs531886164
ClinVar ID: CV861720
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DBT  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 100,657,235
GRCh38 1 100,191,679
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011852.2:g.63175G>A
NC_000001.11:g.100191679C>T
NC_000001.10:g.100657235C>T
NM_001918.3:c.*4576G>A
More... 		01/12/2018 3 prime utr variant uncertain significance Keto acid decarboxylase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DBT
Accession:XM_017000468
Location:3UTRS;EXON

Gene Symbol:DBT
Accession:NM_001918
Location:3UTRS;EXON

Gene Symbol:DBT
Accession:NM_001399972
Location:3UTRS;EXON

Gene Symbol:DBT
Accession:NM_001399969
Location:3UTRS;EXON

Gene Symbol:DBT
Accession:NR_174363
Location:EXON;NON-CODING

Gene Symbol:DBT
Accession:NR_174366
Location:EXON;NON-CODING

Gene Symbol:DBT
Accession:NR_174365
Location:EXON;NON-CODING

Gene Symbol:DBT
Accession:NR_174364
Location:EXON;NON-CODING

Gene Symbol:DBT
Accession:XR_007095647
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001098979 CLINVAR
dbSNP (RS) rs531886164 CLINVAR
MedGen C0024776 CLINVAR
NCBI Gene DBT CLINVAR
OMIM 248600 CLINVAR
  248610 CLINVAR
SNOMED CT 27718001 CLINVAR