RGD:10409223 Rat Genome Database

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Variant: RGD:10409223 -  Homo sapiens

RGD ID: 10409223
RS ID: rs141400889
ClinVar ID: CV211555
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NDUFV1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 67,378,565
GRCh38 11 67,611,094
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_013353.1:g.9243G>A
NC_000011.10:g.67611094G>A
NC_000011.9:g.67378565G>A
NP_009034.2:p.Arg267Lys
More... 		04/11/2018 missense variant uncertain significance all ages 1-9 / 100 000 Leigh Disease; Leigh's disease; Leigh's necrotizing encephalopathy; Leigh's syndrome; MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF; NADH-COENZYME Q REDUCTASE DEFICIENCY; Necrotizing encephalopathy infantile subacute of Leigh; none provided; Subacute necrotizing encephalopathy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NDUFV1
Accession:NM_007103
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 267
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLATRRLLGWSLPARVSVRFSGDTTAPKKTSFGSLKDEDRIFTNLYGRHDWRLKGSLSRGDWYKTKEILLKGPDWILGEI
KTSGLRGRGGAGFPTGLKWSFMNKPSDGRPKYLVVNADEGEPGTCKDREILRHDPHKLLEGCLVGGRAMGARAAYIYIRG
EFYNEASNLQVAIREAYEAGLIGKNACGSGYDFDVFVVRGAGAYICGEETALIESIEGKQGKPRLKPPFPADVGVFGCPT
TVANVETVAVSPTICRRGGTWFAGFGKERNSGTKLFNISGHVNHPCTVEEEMSVPLKELIEKHAGGVTGGWDNLLAVIPG
GSSTPLIPKSVCETVLMDFDALVQAQTGLGTAAVIVMDRSTDIVKAIARLIEFYKHESCGQCTPCREGVDWMNKVMARFV
RGDARPAEIDSLWEISKQIEGHTICALGDGAAWPVQGLIRHFRPELEERMQRFAQQHQARQAAS*

Gene Symbol:NDUFV1
Accession:NM_001166102
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 258
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLATRRLLGWSLPARTAPKKTSFGSLKDEDRIFTNLYGRHDWRLKGSLSRGDWYKTKEILLKGPDWILGEIKTSGLRGRG
GAGFPTGLKWSFMNKPSDGRPKYLVVNADEGEPGTCKDREILRHDPHKLLEGCLVGGRAMGARAAYIYIRGEFYNEASNL
QVAIREAYEAGLIGKNACGSGYDFDVFVVRGAGAYICGEETALIESIEGKQGKPRLKPPFPADVGVFGCPTTVANVETVA
VSPTICRRGGTWFAGFGKERNSGTKLFNISGHVNHPCTVEEEMSVPLKELIEKHAGGVTGGWDNLLAVIPGGSSTPLIPK
SVCETVLMDFDALVQAQTGLGTAAVIVMDRSTDIVKAIARLIEFYKHESCGQCTPCREGVDWMNKVMARFVRGDARPAEI
DSLWEISKQIEGHTICALGDGAAWPVQGLIRHFRPELEERMQRFAQQHQARQAAS*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000195680 CLINVAR
  RCV000294572 CLINVAR
  RCV000390228 CLINVAR
  RCV002517247 CLINVAR
dbSNP (RS) rs141400889 CLINVAR
MedGen C0023264 CLINVAR
  C0950123 CLINVAR
  C3661900 CLINVAR
  CN257533 CLINVAR
NCBI Gene NDUFV1 CLINVAR
OMIM 161015 CLINVAR
  252010 CLINVAR
  256000 CLINVAR
SNOMED CT 29570005 CLINVAR