RGD:28896530 Rat Genome Database

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Variant: RGD:28896530 -  Homo sapiens

RGD ID: 28896530
RS ID: rs150214409
ClinVar ID: CV883453
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NDUFS1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 206,988,568
GRCh38 2 206,123,844
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005006.7:c.*341A>G
NM_001199983.2:c.*341A>G
NG_009248.1:g.40620A>G
NC_000002.12:g.206123844T>C
More... 		01/13/2018 3 prime utr variant likely benign|uncertain significance 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:NDUFS1
Accession:NM_005006
Location:3UTRS;EXON

Gene Symbol:NDUFS1
Accession:NM_001199983
Location:3UTRS;EXON

Gene Symbol:NDUFS1
Accession:NM_001199984
Location:3UTRS;EXON

Gene Symbol:NDUFS1
Accession:NM_001199981
Location:3UTRS;EXON

Gene Symbol:NDUFS1
Accession:NM_001199982
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001141270 CLINVAR
  RCV001141271 CLINVAR
  RCV001786443 CLINVAR
dbSNP (RS) rs150214409 CLINVAR
MedGen C0023264 CLINVAR
  C3661900 CLINVAR
  CN257533 CLINVAR
NCBI Gene NDUFS1 CLINVAR
OMIM 157655 CLINVAR
  252010 CLINVAR
  256000 CLINVAR
SNOMED CT 29570005 CLINVAR