RGD:13538778 Rat Genome Database

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Variant: RGD:13538778 -  Homo sapiens

RGD ID: 13538778
RS ID: rs1171270909
ClinVar ID: CV499484
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NDUFS1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 206,994,793
GRCh38 2 206,130,069
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001199984.2:c.1750+19A>G
NG_009248.1:g.34395A>G
NC_000002.12:g.206130069T>C
NC_000002.11:g.206994793T>C
More... 		06/01/2017 intron variant likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:NDUFS1
Accession:NM_001199983
Location:INTRON

Gene Symbol:NDUFS1
Accession:NM_005006
Location:INTRON

Gene Symbol:NDUFS1
Accession:NM_001199982
Location:INTRON

Gene Symbol:NDUFS1
Accession:NM_001199981
Location:INTRON

Gene Symbol:NDUFS1
Accession:NM_001199984
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000612335 CLINVAR
  RCV002063290 CLINVAR
dbSNP (RS) rs1171270909 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene NDUFS1 CLINVAR
OMIM 157655 CLINVAR