RGD:11591536 Rat Genome Database

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Variant: RGD:11591536 -  Homo sapiens

RGD ID: 11591536
RS ID: rs2784174
ClinVar ID: CV275625
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DBT  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 100,658,578
GRCh38 1 100,193,022
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NG_011852.2:g.61832C>T
NC_000001.11:g.100193022G>A
NC_000001.10:g.100658578G>A
NM_001918.3:c.*3233C>T
More... 		04/11/2023 3 prime utr variant benign 1-9 / 1 000 000 Keto acid decarboxylase deficiency; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DBT
Accession:NM_001918
Location:3UTRS;EXON

Gene Symbol:DBT
Accession:XM_017000468
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_174364
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_174363
Location:EXON;NON-CODING

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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000329977 CLINVAR
  RCV001642896 CLINVAR
dbSNP (RS) rs2784174 CLINVAR
MedGen C0024776 CLINVAR
  C3661900 CLINVAR
NCBI Gene DBT CLINVAR
OMIM 248600 CLINVAR
  248610 CLINVAR
SNOMED CT 27718001 CLINVAR