RGD:10048141 Rat Genome Database

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Variant: RGD:10048141 -  Homo sapiens

RGD ID: 10048141
RS ID: rs794727262
ClinVar ID: CV192318
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DBT  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 100,706,366
GRCh38 1 100,240,810
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_011852.2:g.14044T>G
NC_000001.11:g.100240810A>C
NC_000001.10:g.100706366A>C
NM_001918.3:c.126T>G
More... 		05/30/2018 nonsense pathogenic|likely pathogenic neonatal/infancy 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_001399972
Location:5UTRS;EXON

Gene Symbol:DBT
Accession:XM_017000468
Location:5UTRS;EXON

Gene Symbol:DBT
Accession:NM_001399969
Location:5UTRS;EXON

Gene Symbol:DBT
Accession:NM_001918
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVRMLRTWSRNAGKLICVRYFQTCGNVHVLKPNYVCFFG*PSFKYSHPHHFLKTTAALRGQVVQFKLSDIGEGIREVT
VKEWYVKEGDTVSQFDSICEVQSDKASVTITSRYDGVIKKLYYNLDDIAYVGKPLVDIETEALKDSEEDVVETPAVSHDE
HTHQEIKGRKTLATPAVRRLAMENNIKLSEVVGSGKDGRILKEDILNYLEKQTGAILPPSPKVEIMPPPPKPKDMTVPIL
VSKPPVFTGKDKTEPIKGFQKAMVKTMSAALKIPHFGYCDEIDLTELVKLREELKPIAFARGIKLSFMPFFLKAASLGLL
QFPILNASVDENCQNITYKASHNIGIAMDTEQGLIVPNVKNVQICSIFDIATELNRLQKLGSVSQLSTTDLTGGTFTLSN
IGSIGGTFAKPVIMPPEVAIGALGSIKAIPRFNQKGEVYKAQIMNVSWSADHRVIDGATMSRFSNLWKSYLENPAFMLLD
LK*

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

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:16579849   PMID:16786533   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000175709 CLINVAR
  RCV000724185 CLINVAR
dbSNP (RS) rs794727262 CLINVAR
MedGen C0024776 CLINVAR
  C3661900 CLINVAR
NCBI Gene DBT CLINVAR
OMIM 248600 CLINVAR
  248610 CLINVAR
SNOMED CT 27718001 CLINVAR