RGD:150552633 Rat Genome Database

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Variant: RGD:150552633 -  Homo sapiens

RGD ID: 150552633
RS ID: rs563761118
ClinVar ID: CV1306554
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NDUFA11  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 5,893,098
GRCh38 19 5,893,087
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.517T>A
NG_027808.1:g.15927T>A
NC_000019.10:g.5893087A>T
NC_000019.9:g.5893098A>T
More...
03/03/2015 missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NDUFA11
Accession:NM_001193375
Location:EXON
Amino Acid Prediction: C to S (nonsynonymous)
Amino Acid Position: 173
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPKVFRQYWDIPDGTDCHRKAYSTTSIASVAGLTAAAYRVTLNPPGTFLEGVAKVGQYTFTAAAVGAVFGLTTCISAHV
REKPDDPLNYFLGGCAGGLTLGARKTGSHCVVQAGLKLLASSSPHTSASQSAGIIGMSHCVQRFWVPSSSACLEVLSGES
TDVHACSSTRGASNSSGSRPLPELGARASGSLRKGGHTHPAPRGAGALTPVQALIESLLNTLGSNPRT*

Gene Symbol:NDUFA11
Accession:NM_175614
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001768177 CLINVAR
dbSNP (RS) rs563761118 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NDUFA11 CLINVAR
OMIM 612638 CLINVAR