RGD:151734960 Rat Genome Database

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Variant: RGD:151734960 -  Homo sapiens

RGD ID: 151734960
RS ID: rs1160825293
ClinVar ID: CV1490650
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC112552175  NDUFA11  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 5,903,688
GRCh38 19 5,903,677
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001193375.3:c.32A>C
NM_175614.5:c.32A>C
NG_059309.1:g.100T>G
NG_027808.1:g.5337A>C
More... 		08/05/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:NDUFA11
Accession:NM_001193375
Location:EXON
Amino Acid Prediction: D to A (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPKVFRQYWAIPDGTDCHRKAYSTTSIASVAGLTAAAYRVTLNPPGTFLEGVAKVGQYTFTAAAVGAVFGLTTCISAHV
REKPDDPLNYFLGGCAGGLTLGARKTGSHCVVQAGLKLLASSSPHTSASQSAGIIGMSHCVQRFWVPSSSACLEVLSGES
TDVHACSSTRGACNSSGSRPLPELGARASGSLRKGGHTHPAPRGAGALTPVQALIESLLNTLGSNPRT*

Gene Symbol:NDUFA11
Accession:NM_175614
Location:EXON
Amino Acid Prediction: D to A (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPKVFRQYWAIPDGTDCHRKAYSTTSIASVAGLTAAAYRVTLNPPGTFLEGVAKVGQYTFTAAAVGAVFGLTTCISAHV
REKPDDPLNYFLGGCAGGLTLGARTHNYGIGAAACVYFGIAASLVKMGRLEGWEVFAKPKV*

Gene Symbol:NDUFA11
Accession:NR_034166
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001967507 CLINVAR
dbSNP (RS) rs1160825293 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LOC112552175 CLINVAR
  NDUFA11 CLINVAR
OMIM 612638 CLINVAR