rs531409597 Rat Genome Database

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Variant: rs531409597 -  Homo sapiens

RGD ID: 10411299
RS ID: rs531409597
ClinVar ID: CV210906
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BOLA3  LOC127273739  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 74,374,957
GRCh38 2 74,147,830
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_031910.1:g.5083G>T
NC_000002.12:g.74147830C>A
NC_000002.11:g.74374957C>A
NP_997717.2:p.Gly15=
More... 		10/27/2021 synonymous variant benign|likely benign AllHighlyPenetrant; BOLA3-related condition; MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BOLA3
Accession:NM_001035505
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 15
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAWSPAAAAPLLRGIRGLPLHHRMFATQTEGELRVTQILKEKFPRATAIKVTDISGTKRRNQRDAWIADIYLCPQTLTT
PWLHRCCCLRPWMNFTDIILP*

Gene Symbol:BOLA3
Accession:NM_212552
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 15
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAWSPAAAAPLLRGIRGLPLHHRMFATQTEGELRVTQILKEKFPRATAIKVTDISGGCGAMYEIKIESEEFKEKRTVQQ
HQMVNQALKEEIKEMHGLRIFTSVPKR*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000199983 CLINVAR
  RCV002054321 CLINVAR
  RCV002503768 CLINVAR
  RCV003907730 CLINVAR
dbSNP (RS) rs531409597 CLINVAR
MedGen C3280378 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene BOLA3 CLINVAR
OMIM 613183 CLINVAR
  614299 CLINVAR