RGD:12833918 Rat Genome Database

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Variant: RGD:12833918 -  Homo sapiens

RGD ID: 12833918
RS ID: rs190804887
ClinVar ID: CV366855
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NDUFB3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 201,937,048
GRCh38 2 201,072,325
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_032156.1:g.5587T>C
NC_000002.12:g.201072325T>C
NC_000002.11:g.201937048T>C
NM_001257102.2:c.-25-14T>C
More... 		09/17/2015 intron variant benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:NDUFB3
Accession:XM_011511230
Location:5UTRS;EXON

Gene Symbol:NDUFB3
Accession:XM_047444488
Location:5UTRS;EXON

Gene Symbol:NDUFB3
Accession:NM_002491
Location:5UTRS;INTRON

Gene Symbol:NDUFB3
Accession:NM_001257102
Location:5UTRS;INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000419410 CLINVAR
dbSNP (RS) rs190804887 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene NDUFB3 CLINVAR
OMIM 603839 CLINVAR