RGD:243063629 Rat Genome Database

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Variant: RGD:243063629 -  Homo sapiens

RGD ID: 243063629
ClinVar ID: CV2409520
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BOLA3  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 74,372,403
GRCh38 2 74,145,276
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001035505.2:c.82A>C
NM_212552.3:c.82A>C
NG_031910.1:g.7637A>C
NC_000002.12:g.74145276T>G
More... 		02/01/2021 missense variant uncertain significance MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BOLA3
Accession:NM_001035505
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAWSPAAAAPLLRGIRGLPLHHRMFAPQTEGELRVTQILKEKFPRATAIKVTDISGTKRRNQRDAWIADIYLCPQTLTT
PWLHRCCCLRPWMNFTDIILP*

Gene Symbol:BOLA3
Accession:NM_212552
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAWSPAAAAPLLRGIRGLPLHHRMFAPQTEGELRVTQILKEKFPRATAIKVTDISGGCGAMYEIKIESEEFKEKRTVQQ
HQMVNQALKEEIKEMHGLRIFTSVPKR*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003141662 CLINVAR
MedGen C3280378 CLINVAR
NCBI Gene BOLA3 CLINVAR
OMIM 613183 CLINVAR
  614299 CLINVAR