RGD:12738565 Rat Genome Database

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Variant: RGD:12738565 -  Homo sapiens

RGD ID: 12738565
RS ID: rs201559874
ClinVar ID: CV356979
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DBT  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 100,681,586
GRCh38 1 100,216,030
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NP_001909.4:p.Ser242Ter
NG_011852.2:g.38824C>G
NC_000001.11:g.100216030G>C
NC_000001.10:g.100681586G>C
More... 		08/02/2023 nonsense pathogenic|likely pathogenic 1-9 / 1 000 000 Keto acid decarboxylase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DBT
Accession:NM_001399972
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 61
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENNIKLSEVVGSGKDGRILKEDILNYLEKQTGAILPPSPKVEIMPPPPKPKDMTVPILV*KPPVFTGKDKTEPIKGFQK
AMVKTMSAALKIPHFGYCDEIDLTELVKLREELKPIAFARGIKLSFMPFFLKAASLGLLQFPILNASVDENCQNITYKAS
HNIGIAMDTEQGLIVPNVKNVQICSIFDIATELNRLQKLGSVSQLSTTDLTGGTFTLSNIGSIGGTFAKPVIMPPEVAIG
ALGSIKAIPRFNQKGEVYKAQIMNVSWSADHRVIDGATMSRFSNLWKSYLENPAFMLLDLK*

Gene Symbol:DBT
Accession:NM_001918
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 242
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVRMLRTWSRNAGKLICVRYFQTCGNVHVLKPNYVCFFGYPSFKYSHPHHFLKTTAALRGQVVQFKLSDIGEGIREVT
VKEWYVKEGDTVSQFDSICEVQSDKASVTITSRYDGVIKKLYYNLDDIAYVGKPLVDIETEALKDSEEDVVETPAVSHDE
HTHQEIKGRKTLATPAVRRLAMENNIKLSEVVGSGKDGRILKEDILNYLEKQTGAILPPSPKVEIMPPPPKPKDMTVPIL
V*KPPVFTGKDKTEPIKGFQKAMVKTMSAALKIPHFGYCDEIDLTELVKLREELKPIAFARGIKLSFMPFFLKAASLGLL
QFPILNASVDENCQNITYKASHNIGIAMDTEQGLIVPNVKNVQICSIFDIATELNRLQKLGSVSQLSTTDLTGGTFTLSN
IGSIGGTFAKPVIMPPEVAIGALGSIKAIPRFNQKGEVYKAQIMNVSWSADHRVIDGATMSRFSNLWKSYLENPAFMLLD
LK*

Gene Symbol:DBT
Accession:NM_001399969
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 61
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENNIKLSEVVGSGKDGRILKEDILNYLEKQTGAILPPSPKVEIMPPPPKPKDMTVPILV*KPPVFTGKDKTEPIKGFQK
AMVKTMSAALKIPHFGYCDEIDLTELVKLREELKPIAFARGIKLSFMPFFLKAASLGLLQFPILNASVDENCQNITYKAS
HNIGIAMDTEQGLIVPNVKNVQICSIFDIATELNRLQKLGSVSQLSTTDLTGGTFTLSNIGSIGGTFAKPVIMPPEVAIG
ALGSIKAIPRFNQKGEVYKAQIMNVSWSADHRVIDGATMSRFSNLWKSYLENPAFMLLDLK*

Gene Symbol:DBT
Accession:XM_017000468
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 61
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENNIKLSEVVGSGKDGRILKEDILNYLEKQTGAILPPSPKVEIMPPPPKPKDMTVPILV*KPPVFTGKDKTEPIKGFQK
AMVKTMSAALKIPHFGYCDEIDLTELVKLREELKPIAFARGIKLSFMPFFLKAASLGLLQFPILNASVDENCQNITYKAS
HNIGIAMDTEQGLIVPNVKNVQICSIFDIATELNRLQKLGSVSQLSTTDLTGGTFTLSNIGSIGGTFAKPVIMPPEVAIG
ALGSIKAIPRFNQKGEVYKAQIMNVSWSADHRVIDGATMSRFSNLWKSYLENPAFMLLDLK*

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

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

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

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

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

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000409585 CLINVAR
dbSNP (RS) rs201559874 CLINVAR
MedGen C0024776 CLINVAR
NCBI Gene DBT CLINVAR
OMIM 248600 CLINVAR
  248610 CLINVAR
SNOMED CT 27718001 CLINVAR