RGD:13815145 Rat Genome Database

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Variant: RGD:13815145 -  Homo sapiens

RGD ID: 13815145
RS ID: rs767154711
ClinVar ID: CV556537
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DBT  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 100,671,850
GRCh38 1 100,206,294
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.48560G>T
NC_000001.11:g.100206294C>A
NC_000001.10:g.100671850C>A
NP_001909.4:p.Gly406Val
More...
04/11/2023 missense variant uncertain significance AllHighlyPenetrant; Keto acid decarboxylase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DBT
Accession:NM_001918
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 406
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVRMLRTWSRNAGKLICVRYFQTCGNVHVLKPNYVCFFGYPSFKYSHPHHFLKTTAALRGQVVQFKLSDIGEGIREVT
VKEWYVKEGDTVSQFDSICEVQSDKASVTITSRYDGVIKKLYYNLDDIAYVGKPLVDIETEALKDSEEDVVETPAVSHDE
HTHQEIKGRKTLATPAVRRLAMENNIKLSEVVGSGKDGRILKEDILNYLEKQTGAILPPSPKVEIMPPPPKPKDMTVPIL
VSKPPVFTGKDKTEPIKGFQKAMVKTMSAALKIPHFGYCDEIDLTELVKLREELKPIAFARGIKLSFMPFFLKAASLGLL
QFPILNASVDENCQNITYKASHNIGIAMDTEQGLIVPNVKNVQICSIFDIATELNRLQKLGSVSQLSTTDLTGGTFTLSN
IGSIGVTFAKPVIMPPEVAIGALGSIKAIPRFNQKGEVYKAQIMNVSWSADHRVIDGATMSRFSNLWKSYLENPAFMLLD
LK*

Gene Symbol:DBT
Accession:XM_017000468
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 225
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENNIKLSEVVGSGKDGRILKEDILNYLEKQTGAILPPSPKVEIMPPPPKPKDMTVPILVSKPPVFTGKDKTEPIKGFQK
AMVKTMSAALKIPHFGYCDEIDLTELVKLREELKPIAFARGIKLSFMPFFLKAASLGLLQFPILNASVDENCQNITYKAS
HNIGIAMDTEQGLIVPNVKNVQICSIFDIATELNRLQKLGSVSQLSTTDLTGGTFTLSNIGSIGVTFAKPVIMPPEVAIG
ALGSIKAIPRFNQKGEVYKAQIMNVSWSADHRVIDGATMSRFSNLWKSYLENPAFMLLDLK*

Gene Symbol:DBT
Accession:NM_001399972
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 225
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENNIKLSEVVGSGKDGRILKEDILNYLEKQTGAILPPSPKVEIMPPPPKPKDMTVPILVSKPPVFTGKDKTEPIKGFQK
AMVKTMSAALKIPHFGYCDEIDLTELVKLREELKPIAFARGIKLSFMPFFLKAASLGLLQFPILNASVDENCQNITYKAS
HNIGIAMDTEQGLIVPNVKNVQICSIFDIATELNRLQKLGSVSQLSTTDLTGGTFTLSNIGSIGVTFAKPVIMPPEVAIG
ALGSIKAIPRFNQKGEVYKAQIMNVSWSADHRVIDGATMSRFSNLWKSYLENPAFMLLDLK*

Gene Symbol:DBT
Accession:NM_001399969
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 225
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENNIKLSEVVGSGKDGRILKEDILNYLEKQTGAILPPSPKVEIMPPPPKPKDMTVPILVSKPPVFTGKDKTEPIKGFQK
AMVKTMSAALKIPHFGYCDEIDLTELVKLREELKPIAFARGIKLSFMPFFLKAASLGLLQFPILNASVDENCQNITYKAS
HNIGIAMDTEQGLIVPNVKNVQICSIFDIATELNRLQKLGSVSQLSTTDLTGGTFTLSNIGSIGVTFAKPVIMPPEVAIG
ALGSIKAIPRFNQKGEVYKAQIMNVSWSADHRVIDGATMSRFSNLWKSYLENPAFMLLDLK*

Gene Symbol:DBT
Accession:NR_174363
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:NR_174366
Location:EXON;NON-CODING

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

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000691390 CLINVAR
  RCV003330901 CLINVAR
dbSNP (RS) rs767154711 CLINVAR
MedGen C0024776 CLINVAR
  CN169374 CLINVAR
NCBI Gene DBT CLINVAR
OMIM 248600 CLINVAR
  248610 CLINVAR
SNOMED CT 27718001 CLINVAR