RGD:151754265 Rat Genome Database

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Variant: RGD:151754265 -  Homo sapiens

RGD ID: 151754265
RS ID: rs143941062
ClinVar ID: CV1340038
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC112552175  NDUFA11  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 5,903,661
GRCh38 19 5,903,650
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.59G>A
NM_175614.5:c.59G>A
NG_027808.1:g.5364G>A
NG_059309.1:g.73C>T
More... 		08/26/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:NDUFA11
Accession:NM_175614
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 20
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPKVFRQYWDIPDGTDCHHKAYSTTSIASVAGLTAAAYRVTLNPPGTFLEGVAKVGQYTFTAAAVGAVFGLTTCISAHV
REKPDDPLNYFLGGCAGGLTLGARTHNYGIGAAACVYFGIAASLVKMGRLEGWEVFAKPKV*

Gene Symbol:NDUFA11
Accession:NM_001193375
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 20
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPKVFRQYWDIPDGTDCHHKAYSTTSIASVAGLTAAAYRVTLNPPGTFLEGVAKVGQYTFTAAAVGAVFGLTTCISAHV
REKPDDPLNYFLGGCAGGLTLGARKTGSHCVVQAGLKLLASSSPHTSASQSAGIIGMSHCVQRFWVPSSSACLEVLSGES
TDVHACSSTRGACNSSGSRPLPELGARASGSLRKGGHTHPAPRGAGALTPVQALIESLLNTLGSNPRT*

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 RCV001894648 CLINVAR
dbSNP (RS) rs143941062 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LOC112552175 CLINVAR
  NDUFA11 CLINVAR
OMIM 612638 CLINVAR