RGD:156213935 Rat Genome Database

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Variant: RGD:156213935 -  Homo sapiens

RGD ID: 156213935
ClinVar ID: CV2088907
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NDUFB11  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 47,002,111
GRCh38 X 47,142,712
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001129470.1:p.Pro80=
NP_061929.2:p.Pro80=
NM_001135998.3:c.240C>A
NM_019056.7:c.240C>A
More... 		09/01/2022 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NDUFB11
Accession:NM_001135998
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 80
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGLFGLSARRLLAAAATRGLPAARVRWESSFSRTVVAPSAVAGKRPPEPTTPWQEDPEPEDENLYEKNPDSHGYDKDP
VLDVWNMRLVFFFGVSIILVLGSTFVAYLPDYRMKEWSRREAERLVKYREANGLPIMESNCFDPSKIQLPEDE*

Gene Symbol:NDUFB11
Accession:NM_019056
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 80
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGLFGLSARRLLAAAATRGLPAARVRWESSFSRTVVAPSAVAGKRPPEPTTPWQEDPEPEDENLYEKNPDSHGYDKDP
VLDVWNMRLVFFFGVSIILVLGSTFVAYLPDYRCTGCPRAWDGMKEWSRREAERLVKYREANGLPIMESNCFDPSKIQLP
EDE*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002893909 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NDUFB11 CLINVAR
OMIM 300403 CLINVAR