RGD:156171078 Rat Genome Database

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Variant: RGD:156171078 -  Homo sapiens

RGD ID: 156171078
ClinVar ID: CV1968322
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NDUFB11  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 47,002,002
GRCh38 X 47,142,603
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001135998.3:c.338+11T>C
NM_019056.7:c.349T>C
NG_012548.1:g.2372A>G
NG_052579.1:g.7608T>C
More... 		10/13/2022 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:NDUFB11
Accession:NM_019056
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGLFGLSARRLLAAAATRGLPAARVRWESSFSRTVVAPSAVAGKRPPEPTTPWQEDPEPEDENLYEKNPDSHGYDKDP
VLDVWNMRLVFFFGVSIILVLGSTFVAYLPDYRCTGRPRAWDGMKEWSRREAERLVKYREANGLPIMESNCFDPSKIQLP
EDE*

Gene Symbol:NDUFB11
Accession:NM_001135998
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002594772 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NDUFB11 CLINVAR
OMIM 300403 CLINVAR