rs886056327 Rat Genome Database

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Variant: rs886056327 -  Homo sapiens

RGD ID: 11661695
RS ID: rs886056327
ClinVar ID: CV287948
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BOLA3  LOC127273739  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 74,375,009
GRCh38 2 74,147,882
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.5031G>A
NC_000002.12:g.74147882C>T
NC_000002.11:g.74375009C>T
NM_001035505.2:c.-8G>A
More... 		01/12/2018 5 prime utr 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_212552
Location:5UTRS;EXON

Gene Symbol:BOLA3
Accession:NM_001035505
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000379214 CLINVAR
dbSNP (RS) rs886056327 CLINVAR
MedGen C3280378 CLINVAR
NCBI Gene BOLA3 CLINVAR
OMIM 613183 CLINVAR
  614299 CLINVAR